Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119922665G>A , CM000663.2:g.119922665G>A | GRCh38 |
| NC_000001.10:g.120465288G>A , CM000663.1:g.120465288G>A | GRCh37 |
| NC_000001.9:g.120266811G>A | NCBI36 |
| NG_008163.1:g.151989C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024408.4:c.4973C>T MANE Select | NP_077719.2:p.Thr1658Ile |
| ENST00000256646.7:c.4973C>T MANE Select | ENSP00000256646.2:p.Thr1658Ile |
| NM_024408.3:c.4973C>T | NP_077719.2:p.Thr1658Ile |
| ENST00000256646.6:c.4973C>T | ENSP00000256646.2:p.Thr1658Ile |
| ENST00000493703.1:n.383C>T | |
| XM_005270901.2:c.4856C>T | XP_005270958.1:p.Thr1619Ile |
| XM_011541519.1:c.4961C>T | XP_011539821.1:p.Thr1654Ile |
| XM_011541520.1:c.4856C>T | XP_011539822.1:p.Thr1619Ile |