Transcript | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|
ENST00000302118.5 | c.523G>A | p.Asp175Asn | missense_variant,splice_region_variant | 3/12 | - |
ENST00000452118.2 | c.523G>A | p.Ala175Thr | missense_variant,splice_region_variant | 3/6 | - |
ENST00000543384.1 | c.-77-5632G>A | - | intron_variant | - | 1/9 |
NM_174936.4 | c.523G>A | p.Asp175Asn | missense_variant,splice_region_variant | 3/12 | - |
NR_110451.1 | n.183-5632G>A | - | intron_variant,non_coding_transcript_variant | - | 1/9 |