Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74789372G>A , CM000669.2:g.74789372G>A | GRCh38 |
| NC_000007.13:g.74203716G>A , CM000669.1:g.74203716G>A | GRCh37 |
| NC_000007.12:g.73841652G>A | NCBI36 |
| NG_009078.2:g.20409G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289473.10:c.*212G>A | ENSP00000289473.4:n.*212G>A | |
| NM_000265.5:c.*212G>A | NP_000256.4:n.*212G>A | |
| XM_005250543.3:c.*306G>A | XP_005250600.2:n.*306G>A | |
| XM_011516498.1:c.*259G>A | XP_011514800.1:n.*259G>A | |
| XM_011516501.1:c.*212G>A | XP_011514803.1:n.*212G>A | |
| NM_000265.6:c.*212G>A | NP_000256.4:n.*212G>A |