Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197706214G>A , CM000664.2:g.197706214G>A | GRCh38 |
| NC_000002.11:g.198570938G>A , CM000664.1:g.198570938G>A | GRCh37 |
| NC_000002.10:g.198279183G>A | NCBI36 |
| NG_034122.1:g.5911G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282276.8:c.809G>A MANE Select | ENSP00000282276.6:p.Gly270Glu | |
| ENST00000282276.7:c.809G>A | ENSP00000282276.6:p.Gly270Glu | |
| NM_138395.3:c.809G>A | NP_612404.1:p.Gly270Glu | |
| NM_138395.4:c.809G>A MANE Select | NP_612404.1:p.Gly270Glu |