Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500267A>C , CM000663.2:g.45500267A>C | GRCh38 |
| NC_000001.10:g.45965939A>C , CM000663.1:g.45965939A>C | GRCh37 |
| NC_000001.9:g.45738526A>C | NCBI36 |
| NG_013378.1:g.5084A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.8:c.-66A>C | ENSP00000383840.4:n.-66A>C | |
| NM_015506.2:c.-66A>C | NP_056321.2:n.-66A>C | |
| NM_001330540.1:c.-288A>C | NP_001317469.1:n.-288A>C | |
| XM_005270724.5:c.-66A>C | XP_005270781.1:n.-66A>C |