Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127418286C>A , CM000664.2:g.127418286C>A | GRCh38 |
| NC_000002.11:g.128175862C>A , CM000664.1:g.128175862C>A | GRCh37 |
| NC_000002.10:g.127892332C>A | NCBI36 |
| NG_016323.1:g.4867C>A , LRG_599:g.4867C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017004505.1:c.51C>A | XP_016859994.1:p.Asp17Glu | |
| XM_024453002.1:c.51C>A | XP_024308770.1:p.Asp17Glu |