Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454325C>T , CM000679.2:g.7454325C>T | GRCh38 |
| NC_000017.10:g.7357644C>T , CM000679.1:g.7357644C>T | GRCh37 |
| NC_000017.9:g.7298368C>T | NCBI36 |
| NG_008026.1:g.14239C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.849C>T MANE Select | ENSP00000304290.2:p.Ala283= | |
| ENST00000306071.6:c.849C>T | ENSP00000304290.2:p.Ala283= | |
| ENST00000536404.6:c.633C>T | ENSP00000439209.2:p.Ala211= | |
| ENST00000570557.5:c.512C>T | ||
| ENST00000573209.1:n.1793C>T | ||
| ENST00000576360.1:c.605-119C>T | ENSP00000459092.1:n.605-119C>T | |
| NM_000747.2:c.849C>T | NP_000738.2:p.Ala283= | |
| NM_000747.3:c.849C>T MANE Select | NP_000738.2:p.Ala283= |