Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.107945422C>T , CM000666.2:g.107945422C>T | GRCh38 |
| NC_000004.11:g.108866578C>T , CM000666.1:g.108866578C>T | GRCh37 |
| NC_000004.10:g.109086027C>T | NCBI36 |
| NG_007961.1:g.18862C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332884.11:c.943C>T MANE Select | ENSP00000333212.6:p.Gln315Ter | |
| ENST00000332884.10:c.943C>T | ENSP00000333212.6:p.Gln315Ter | |
| ENST00000508453.1:c.316C>T | ENSP00000423667.1:p.Gln106Ter | |
| NM_183075.2:c.943C>T | NP_898898.1:p.Gln315Ter | |
| XM_005262717.2:c.997C>T | XP_005262774.1:p.Gln333Ter | |
| XM_005262720.2:c.491-1954C>T | XP_005262777.1:n.491-1954C>T | |
| XR_001741783.1:n.156-34873G>A | ||
| XR_001741784.1:n.530+33298G>A | ||
| NM_183075.3:c.943C>T MANE Select | NP_898898.1:p.Gln315Ter |