Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500280C>T , CM000663.2:g.45500280C>T | GRCh38 |
| NC_000001.10:g.45965952C>T , CM000663.1:g.45965952C>T | GRCh37 |
| NC_000001.9:g.45738539C>T | NCBI36 |
| NG_013378.1:g.5097C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.8:c.-53C>T | ENSP00000383840.4:n.-53C>T | |
| NM_015506.2:c.-53C>T | NP_056321.2:n.-53C>T | |
| NM_001330540.1:c.-275C>T | NP_001317469.1:n.-275C>T | |
| XM_005270724.5:c.-53C>T | XP_005270781.1:n.-53C>T |