Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78780437C>T , CM000667.2:g.78780437C>T | GRCh38 |
| NC_000005.9:g.78076260C>T , CM000667.1:g.78076260C>T | GRCh37 |
| NC_000005.8:g.78112016C>T | NCBI36 |
| NG_007089.1:g.211098G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000046.5:c.1562G>A MANE Select | NP_000037.2:p.Cys521Tyr |
| ENST00000264914.10:c.1562G>A MANE Select | ENSP00000264914.4:p.Cys521Tyr |
| NM_000046.3:c.1562G>A | NP_000037.2:p.Cys521Tyr |
| NM_000046.4:c.1562G>A | NP_000037.2:p.Cys521Tyr |
| ENST00000264914.8:c.1562G>A | ENSP00000264914.4:p.Cys521Tyr |
| ENST00000521011.1:n.527G>A | |
| XM_011543390.1:c.1562G>A | XP_011541692.1:p.Cys521Tyr |