Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185192375C>T , CM000665.2:g.185192375C>T | GRCh38 |
| NC_000003.11:g.184910163C>T , CM000665.1:g.184910163C>T | GRCh37 |
| NC_000003.10:g.186392857C>T | NCBI36 |
| NG_015999.1:g.66724G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231887.8:c.2023G>A MANE Select | ENSP00000231887.3:p.Val675Ile | |
| ENST00000231887.7:c.2023G>A | ENSP00000231887.3:p.Val675Ile | |
| ENST00000456310.5:c.1735G>A | ENSP00000387746.1:p.Val579Ile | |
| NM_001166415.1:c.1735G>A | NP_001159887.1:p.Val579Ile | |
| NM_001966.3:c.2023G>A | NP_001957.2:p.Val675Ile | |
| XM_006713525.1:c.1399G>A | XP_006713588.1:p.Val467Ile | |
| XM_011512517.1:c.1735G>A | XP_011510819.1:p.Val579Ile | |
| NM_001966.4:c.2023G>A MANE Select | NP_001957.2:p.Val675Ile | |
| NM_001166415.2:c.1735G>A | NP_001159887.1:p.Val579Ile |