Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.52844719A>G , CM000675.2:g.52844719A>G | GRCh38 |
| NC_000013.10:g.53418854A>G , CM000675.1:g.53418854A>G | GRCh37 |
| NC_000013.9:g.52316855A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002590.4:c.3054T>C MANE Select | NP_002581.2:p.Tyr1018= |
| ENST00000377942.7:c.3054T>C MANE Select | ENSP00000367177.3:p.Tyr1018= |
| NM_002590.3:c.3054T>C | NP_002581.2:p.Tyr1018= |
| NM_032949.2:c.2763T>C | NP_116567.1:p.Tyr921= |
| NM_032949.3:c.2763T>C | NP_116567.1:p.Tyr921= |
| ENST00000338862.5:c.2763T>C | ENSP00000341350.4:p.Tyr921= |
| ENST00000613548.1:n.484T>C |