dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.963799C>A , CM000674.2:g.963799C>A | GRCh38 |
| NC_000012.11:g.1072965C>A , CM000674.1:g.1072965C>A | GRCh37 |
| NC_000012.10:g.943226C>A | NCBI36 |
| NG_017078.2:g.31243G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000430095.6:c.-19+26010G>T | ENSP00000387901.2:n.-19+26010G>T | |
| NM_001297419.1:c.-19+26010G>T | NP_001284348.1:n.-19+26010G>T | |
| XM_005253720.3:c.-19+26010G>T | XP_005253777.1:n.-19+26010G>T | |
| XM_005253720.5:c.-19+26010G>T | XP_005253777.1:n.-19+26010G>T | |
| XM_017019769.1:c.-19+26010G>T | XP_016875258.1:n.-19+26010G>T |