Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665819A>G , CM000663.2:g.172665819A>G | GRCh38 |
| NC_000001.10:g.172634959A>G , CM000663.1:g.172634959A>G | GRCh37 |
| NC_000001.9:g.170901582A>G | NCBI36 |
| NG_007269.1:g.11775A>G , LRG_58:g.11775A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.649A>G MANE Select | ENSP00000356694.2:p.Lys217Glu | |
| ENST00000340030.4:c.*219A>G | ENSP00000344739.3:n.*219A>G | |
| ENST00000367721.2:c.649A>G | ENSP00000356694.2:p.Lys217Glu | |
| NM_000639.2:c.649A>G | NP_000630.1:p.Lys217Glu | |
| NM_001302746.1:c.*219A>G | NP_001289675.1:n.*219A>G | |
| NM_000639.3:c.649A>G MANE Select | NP_000630.1:p.Lys217Glu | |
| NM_001302746.2:c.*219A>G | NP_001289675.1:n.*219A>G |