Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31536297T>A , CM000680.2:g.31536297T>A | GRCh38 |
| NC_000018.9:g.29116260T>A , CM000680.1:g.29116260T>A | GRCh37 |
| NC_000018.8:g.27370258T>A | NCBI36 |
| NG_007072.3:g.43056T>A , LRG_397:g.43056T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001943.5:c.1519T>A MANE Select | NP_001934.2:p.Cys507Ser |
| ENST00000261590.13:c.1519T>A MANE Select | ENSP00000261590.8:p.Cys507Ser |
| NM_001943.3:c.1519T>A , LRG_397t1:c.1519T>A | NP_001934.2:p.Cys507Ser |
| NM_001943.4:c.1519T>A | NP_001934.2:p.Cys507Ser |
| ENST00000261590.12:c.1519T>A | ENSP00000261590.8:p.Cys507Ser |
| XM_024451095.1:c.985T>A | XP_024306863.1:p.Cys329Ser |