Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52844596G>A , CM000675.2:g.52844596G>A | GRCh38 |
| NC_000013.10:g.53418731G>A , CM000675.1:g.53418731G>A | GRCh37 |
| NC_000013.9:g.52316732G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002590.4:c.3177C>T MANE Select | NP_002581.2:p.Tyr1059= |
| ENST00000377942.7:c.3177C>T MANE Select | ENSP00000367177.3:p.Tyr1059= |
| NM_002590.3:c.3177C>T | NP_002581.2:p.Tyr1059= |
| NM_032949.2:c.2886C>T | NP_116567.1:p.Tyr962= |
| NM_032949.3:c.2886C>T | NP_116567.1:p.Tyr962= |
| ENST00000338862.5:c.2886C>T | ENSP00000341350.4:p.Tyr962= |
| ENST00000613548.1:n.607C>T |