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