Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45500327T>G , CM000663.2:g.45500327T>G | GRCh38 |
| NC_000001.10:g.45965999T>G , CM000663.1:g.45965999T>G | GRCh37 |
| NC_000001.9:g.45738586T>G | NCBI36 |
| NG_013378.1:g.5144T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.-6T>G MANE Select | ENSP00000383840.4:n.-6T>G | |
| ENST00000401061.8:c.-6T>G | ENSP00000383840.4:n.-6T>G | |
| NM_015506.2:c.-6T>G | NP_056321.2:n.-6T>G | |
| XM_005270724.3:c.-6T>G | XP_005270781.1:n.-6T>G | |
| XM_011541204.1:c.-228T>G | XP_011539506.1:n.-228T>G | |
| NM_001330540.1:c.-228T>G | NP_001317469.1:n.-228T>G | |
| XM_005270724.5:c.-6T>G | XP_005270781.1:n.-6T>G | |
| NM_015506.3:c.-6T>G MANE Select | NP_056321.2:n.-6T>G | |
| NM_001330540.2:c.-228T>G | NP_001317469.1:n.-228T>G |