Transcript | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|
ENST00000324071.4 | c.516G>T | p.Gln172His | missense_variant | 4/9 | - |
ENST00000330446.5 | c.364+2490G>T | - | intron_variant | - | 2/4 |
ENST00000593831.1 | c.256+2490G>T | - | intron_variant | - | 2/4 |
ENST00000594187.1 | n.100G>T | - | non_coding_transcript_exon_variant | 2/2 | - |
ENST00000598834.1 | n.418G>T | - | non_coding_transcript_exon_variant | 4/5 | - |
NM_000767.5 | c.516G>T | p.Gln172His | missense_variant | 4/9 | - |