Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152112226G>A , CM000663.2:g.152112226G>A | GRCh38 |
| NC_000001.10:g.152084702G>A , CM000663.1:g.152084702G>A | GRCh37 |
| NC_000001.9:g.150351326G>A | NCBI36 |
| NG_052960.1:g.8229C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007113.4:c.991C>T MANE Select | NP_009044.2:p.Gln331Ter |
| ENST00000614923.2:c.991C>T MANE Select | ENSP00000480484.1:p.Gln331Ter |
| NM_007113.3:c.991C>T | NP_009044.2:p.Gln331Ter |
| ENST00000368804.5:c.991C>T | ENSP00000357794.1:p.Gln331Ter |
| ENST00000614923.1:c.991C>T | ENSP00000480484.1:p.Gln331Ter |