Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.70176919T>A , CM000679.2:g.70176919T>A | GRCh38 |
| NC_000017.10:g.68173060T>A , CM000679.1:g.68173060T>A | GRCh37 |
| NC_000017.9:g.65684655T>A | NCBI36 |
| NG_008798.1:g.12385T>A , LRG_328:g.12385T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243457.4:c.*596T>A MANE Select | ENSP00000243457.2:n.*596T>A | |
| ENST00000243457.3:c.*596T>A | ENSP00000243457.2:n.*596T>A | |
| NM_000891.2:c.*596T>A , LRG_328t1:c.*596T>A | NP_000882.1:n.*596T>A | |
| XM_011524779.1:c.*596T>A | XP_011523081.1:n.*596T>A | |
| NM_000891.3:c.*596T>A MANE Select | NP_000882.1:n.*596T>A |