Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203186754G>A , CM000663.2:g.203186754G>A | GRCh38 |
| NC_000001.10:g.203155882G>A , CM000663.1:g.203155882G>A | GRCh37 |
| NC_000001.9:g.201422505G>A | NCBI36 |
| NG_013056.1:g.5041C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001276.2:c.-131C>T | NP_001267.2:n.-131C>T |
| XM_011509105.1:c.-131C>T | XP_011507407.1:n.-131C>T |
| XM_011509106.1:c.-131C>T | XP_011507408.1:n.-131C>T |
| XM_011509107.1:c.-131C>T | XP_011507409.1:n.-131C>T |
| XM_011509108.1:c.-131C>T | XP_011507410.1:n.-131C>T |