Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022615C>T , CM000663.2:g.17022615C>T | GRCh38 |
| NC_000001.10:g.17349110C>T , CM000663.1:g.17349110C>T | GRCh37 |
| NC_000001.9:g.17221697C>T | NCBI36 |
| NG_012340.1:g.36556G>A , LRG_316:g.36556G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003000.3:c.758G>A MANE Select | NP_002991.2:p.Cys253Tyr |
| ENST00000375499.8:c.758G>A MANE Select | ENSP00000364649.3:p.Cys253Tyr |
| NM_003000.2:c.758G>A , LRG_316t1:c.758G>A | NP_002991.2:p.Cys253Tyr |
| ENST00000375499.7:c.758G>A | ENSP00000364649.3:p.Cys253Tyr |
| ENST00000463045.3:c.587G>A | ENSP00000481376.2:p.Cys196Tyr |
| ENST00000475049.5:n.183G>A | |
| ENST00000485092.5:n.422G>A | |
| ENST00000485515.5:n.692G>A | |
| ENST00000491274.6:c.716G>A | ENSP00000480482.2:p.Cys239Tyr |