Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44351607C>T , CM000679.2:g.44351607C>T | GRCh38 |
| NC_000017.10:g.42428975C>T , CM000679.1:g.42428975C>T | GRCh37 |
| NC_000017.9:g.39784501C>T | NCBI36 |
| NG_007886.1:g.11485C>T , LRG_661:g.11485C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002087.4:c.991C>T MANE Select | NP_002078.1:p.Gln331Ter |
| ENST00000053867.8:c.991C>T MANE Select | ENSP00000053867.2:p.Gln331Ter |
| NM_002087.3:c.991C>T | NP_002078.1:p.Gln331Ter |
| ENST00000053867.7:c.991C>T | ENSP00000053867.2:p.Gln331Ter |
| ENST00000586443.1:c.432C>T | |
| ENST00000589265.5:c.520C>T | ENSP00000467616.1:p.Gln174Ter |
| ENST00000589923.1:n.249C>T | |
| ENST00000639447.1:c.991C>T | ENSP00000492014.1:p.Gln331Ter |
| XM_005257253.1:c.991C>T | XP_005257310.1:p.Gln331Ter |
| XM_024450730.1:c.991C>T | XP_024306498.1:p.Gln331Ter |