Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227871142T>A , CM000664.2:g.227871142T>A | GRCh38 |
| NC_000002.11:g.228735858T>A , CM000664.1:g.228735858T>A | GRCh37 |
| NC_000002.10:g.228444102T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000373666.6:c.-548T>A | ENSP00000362770.2:n.-548T>A |
| XM_011510755.1:c.-645T>A | XP_011509057.1:n.-645T>A |