Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52791248T>A , CM000674.2:g.52791248T>A | GRCh38 |
| NC_000012.11:g.53185032T>A , CM000674.1:g.53185032T>A | GRCh37 |
| NC_000012.10:g.51471299T>A | NCBI36 |
| NG_008350.1:g.9861A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417996.2:c.1493A>T MANE Select | ENSP00000413479.2:p.Glu498Val | |
| NM_057088.2:c.1493A>T | NP_476429.2:p.Glu498Val | |
| XM_011538324.1:c.1133A>T | XP_011536626.1:p.Glu378Val | |
| XM_024448975.1:c.1757A>T | XP_024304743.1:p.Glu586Val | |
| NM_057088.3:c.1493A>T MANE Select | NP_476429.2:p.Glu498Val |