Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.107324898G>A , CM000671.2:g.107324898G>A | GRCh38 |
| NC_000009.11:g.110087179G>A , CM000671.1:g.110087179G>A | GRCh37 |
| NC_000009.10:g.109127000G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358015.8:c.1010G>A MANE Select | ENSP00000350708.3:p.Gly337Asp | |
| ENST00000358015.7:c.1010G>A | ENSP00000350708.3:p.Gly337Asp | |
| ENST00000416373.6:c.794G>A | ENSP00000405623.2:p.Gly265Asp | |
| ENST00000457811.1:c.290+6019G>A | ||
| NM_001244713.1:c.947G>A | NP_001231642.1:p.Gly316Asp | |
| NM_001244724.1:c.794G>A | NP_001231653.1:p.Gly265Asp | |
| NM_002874.4:c.1010G>A | NP_002865.1:p.Gly337Asp | |
| NM_002874.5:c.1010G>A MANE Select | NP_002865.1:p.Gly337Asp | |
| NM_001244724.2:c.794G>A | NP_001231653.1:p.Gly265Asp |