Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74789375G>A , CM000669.2:g.74789375G>A | GRCh38 |
| NC_000007.13:g.74203719G>A , CM000669.1:g.74203719G>A | GRCh37 |
| NC_000007.12:g.73841655G>A | NCBI36 |
| NG_009078.2:g.20412G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289473.10:c.*215G>A | ENSP00000289473.4:n.*215G>A | |
| NM_000265.5:c.*215G>A | NP_000256.4:n.*215G>A | |
| XM_005250543.3:c.*309G>A | XP_005250600.2:n.*309G>A | |
| XM_011516498.1:c.*262G>A | XP_011514800.1:n.*262G>A | |
| XM_011516501.1:c.*215G>A | XP_011514803.1:n.*215G>A | |
| NM_000265.6:c.*215G>A | NP_000256.4:n.*215G>A |