Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119921747A>G , CM000663.2:g.119921747A>G | GRCh38 |
| NC_000001.10:g.120464370A>G , CM000663.1:g.120464370A>G | GRCh37 |
| NC_000001.9:g.120265893A>G | NCBI36 |
| NG_008163.1:g.152907T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024408.4:c.5276T>C MANE Select | NP_077719.2:p.Val1759Ala |
| ENST00000256646.7:c.5276T>C MANE Select | ENSP00000256646.2:p.Val1759Ala |
| NM_024408.3:c.5276T>C | NP_077719.2:p.Val1759Ala |
| ENST00000256646.6:c.5276T>C | ENSP00000256646.2:p.Val1759Ala |
| XM_005270901.2:c.5159T>C | XP_005270958.1:p.Val1720Ala |
| XM_011541519.1:c.5264T>C | XP_011539821.1:p.Val1755Ala |
| XM_011541520.1:c.5159T>C | XP_011539822.1:p.Val1720Ala |