Transcript | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|
ENST00000309234.6 | c.845G>A | p.Cys282Tyr | missense_variant | 4/6 | - |
ENST00000317896.7 | c.569G>A | p.Cys190Tyr | missense_variant | 3/5 | - |
ENST00000336625.8 | c.527G>A | p.Cys176Tyr | missense_variant | 3/5 | - |
ENST00000349999.4 | c.581G>A | p.Cys194Tyr | missense_variant | 3/5 | - |
ENST00000352392.4 | c.77-206G>A | - | intron_variant | - | 1/2 |
ENST00000353147.5 | c.305G>A | p.Cys102Tyr | missense_variant | 2/4 | - |
ENST00000357618.5 | c.845G>A | p.Cys282Tyr | missense_variant | 4/6 | - |
ENST00000397022.3 | c.776G>A | p.Cys259Tyr | missense_variant | 4/6 | - |
ENST00000461397.1 | c.803G>A | p.Cys268Tyr | missense_variant | 4/6 | - |
ENST00000470149.1 | c.836G>A | p.Cys279Tyr | missense_variant | 5/7 | - |
ENST00000483782.1 | n.1176G>A | - | non_coding_transcript_exon_variant | 3/3 | - |
ENST00000486147.1 | n.688G>A | - | non_coding_transcript_exon_variant | 3/5 | - |
ENST00000488199.1 | c.539G>A | p.Cys180Tyr | missense_variant | 3/5 | - |
NM_000410.3 | c.845G>A | p.Cys282Tyr | missense_variant | 4/6 | - |
NM_001300749.2 | c.845G>A | p.Cys282Tyr | missense_variant | 4/6 | - |
NM_139003.3 | c.527G>A | p.Cys176Tyr | missense_variant | 3/5 | - |
NM_139004.3 | c.569G>A | p.Cys190Tyr | missense_variant | 3/5 | - |
NM_139006.3 | c.803G>A | p.Cys268Tyr | missense_variant | 4/6 | - |
NM_139007.3 | c.581G>A | p.Cys194Tyr | missense_variant | 3/5 | - |
NM_139008.3 | c.539G>A | p.Cys180Tyr | missense_variant | 3/5 | - |
NM_139009.3 | c.776G>A | p.Cys259Tyr | missense_variant | 4/6 | - |
NM_139010.3 | c.305G>A | p.Cys102Tyr | missense_variant | 2/4 | - |
NM_139011.3 | c.77-206G>A | - | intron_variant | - | 1/2 |