Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185192835C>T , CM000665.2:g.185192835C>T | GRCh38 |
| NC_000003.11:g.184910623C>T , CM000665.1:g.184910623C>T | GRCh37 |
| NC_000003.10:g.186393317C>T | NCBI36 |
| NG_015999.1:g.66264G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001966.4:c.1563G>A MANE Select | NP_001957.2:p.Val521= |
| ENST00000231887.8:c.1563G>A MANE Select | ENSP00000231887.3:p.Val521= |
| NM_001166415.1:c.1275G>A | NP_001159887.1:p.Val425= |
| NM_001166415.2:c.1275G>A | NP_001159887.1:p.Val425= |
| NM_001966.3:c.1563G>A | NP_001957.2:p.Val521= |
| ENST00000231887.7:c.1563G>A | ENSP00000231887.3:p.Val521= |
| ENST00000456310.5:c.1275G>A | ENSP00000387746.1:p.Val425= |
| XM_006713525.1:c.939G>A | XP_006713588.1:p.Val313= |
| XM_011512517.1:c.1275G>A | XP_011510819.1:p.Val425= |