Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500326G>A , CM000663.2:g.45500326G>A | GRCh38 |
| NC_000001.10:g.45965998G>A , CM000663.1:g.45965998G>A | GRCh37 |
| NC_000001.9:g.45738585G>A | NCBI36 |
| NG_013378.1:g.5143G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.-7G>A MANE Select | ENSP00000383840.4:n.-7G>A | |
| ENST00000401061.8:c.-7G>A | ENSP00000383840.4:n.-7G>A | |
| NM_015506.2:c.-7G>A | NP_056321.2:n.-7G>A | |
| XM_005270724.3:c.-7G>A | XP_005270781.1:n.-7G>A | |
| XM_011541204.1:c.-229G>A | XP_011539506.1:n.-229G>A | |
| NM_001330540.1:c.-229G>A | NP_001317469.1:n.-229G>A | |
| XM_005270724.5:c.-7G>A | XP_005270781.1:n.-7G>A | |
| NM_015506.3:c.-7G>A MANE Select | NP_056321.2:n.-7G>A | |
| NM_001330540.2:c.-229G>A | NP_001317469.1:n.-229G>A |