Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139956185C>T , CM000685.2:g.139956185C>T | GRCh38 |
| NC_000023.10:g.139038344C>T , CM000685.1:g.139038344C>T | GRCh37 |
| NC_000023.9:g.138866010C>T | NCBI36 |
| NG_021221.1:g.14334G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001013403.3:c.797G>A MANE Select | NP_001013421.1:p.Cys266Tyr |
| ENST00000370540.2:c.797G>A MANE Select | ENSP00000359571.1:p.Cys266Tyr |
| NM_001013403.2:c.797G>A | NP_001013421.1:p.Cys266Tyr |
| ENST00000370540.1:c.797G>A | ENSP00000359571.1:p.Cys266Tyr |