Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21543591C>T , CM000669.2:g.21543591C>T | GRCh38 |
| NC_000007.13:g.21583209C>T , CM000669.1:g.21583209C>T | GRCh37 |
| NC_000007.12:g.21549734C>T | NCBI36 |
| NG_012886.2:g.5377C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001277115.2:c.346C>T MANE Select | NP_001264044.1:p.Gln116Ter |
| ENST00000409508.8:c.346C>T MANE Select | ENSP00000475939.1:p.Gln116Ter |
| NM_001277115.1:c.346C>T | NP_001264044.1:p.Gln116Ter |
| ENST00000328843.10:c.346C>T | ENSP00000330671.7:p.Gln116Ter |
| ENST00000409508.7:c.346C>T | ENSP00000475939.1:p.Gln116Ter |
| ENST00000607050.1:n.146C>T | |
| ENST00000620169.4:c.346C>T | ENSP00000481693.1:p.Gln116Ter |