Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165046852C>T , CM000665.2:g.165046852C>T | GRCh38 |
| NC_000003.11:g.164764640C>T , CM000665.1:g.164764640C>T | GRCh37 |
| NC_000003.10:g.166247334C>T | NCBI36 |
| NG_017043.1:g.36644G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.1876G>A MANE Select | ENSP00000264382.3:p.Gly626Arg | |
| ENST00000264382.7:c.1876G>A | ENSP00000264382.3:p.Gly626Arg | |
| NM_001041.3:c.1876G>A | NP_001032.2:p.Gly626Arg | |
| XM_011513078.1:c.1777G>A | XP_011511380.1:p.Gly593Arg | |
| XM_011513078.2:c.1777G>A | XP_011511380.1:p.Gly593Arg | |
| NM_001041.4:c.1876G>A MANE Select | NP_001032.2:p.Gly626Arg |