Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165046998A>G , CM000665.2:g.165046998A>G | GRCh38 |
| NC_000003.11:g.164764786A>G , CM000665.1:g.164764786A>G | GRCh37 |
| NC_000003.10:g.166247480A>G | NCBI36 |
| NG_017043.1:g.36498T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001041.4:c.1730T>C MANE Select | NP_001032.2:p.Val577Ala |
| ENST00000264382.8:c.1730T>C MANE Select | ENSP00000264382.3:p.Val577Ala |
| NM_001041.3:c.1730T>C | NP_001032.2:p.Val577Ala |
| ENST00000264382.7:c.1730T>C | ENSP00000264382.3:p.Val577Ala |
| XM_011513078.1:c.1631T>C | XP_011511380.1:p.Val544Ala |
| XM_011513078.2:c.1631T>C | XP_011511380.1:p.Val544Ala |