Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4918002A>G , CM000674.2:g.4918002A>G | GRCh38 |
| NC_000012.11:g.5027168A>G , CM000674.1:g.5027168A>G | GRCh37 |
| NC_000012.10:g.4897429A>G | NCBI36 |
| NG_011815.1:g.13096A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382545.5:c.*5136A>G MANE Select | ENSP00000371985.3:n.*5136A>G | |
| ENST00000543874.3:n.322A>G | ||
| ENST00000639306.1:c.2400A>G | ENSP00000492506.1:n.2400A>G | |
| ENST00000639680.1:c.376A>G | ||
| ENST00000382545.3:c.*5136A>G | ENSP00000371985.3:n.*5136A>G | |
| ENST00000541095.1:n.105+7530A>G | ||
| ENST00000543874.2:n.313A>G | ||
| NM_000217.2:c.*5136A>G | NP_000208.2:n.*5136A>G | |
| NM_000217.3:c.*5136A>G MANE Select | NP_000208.2:n.*5136A>G |