Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.950115A>C , CM000674.2:g.950115A>C | GRCh38 |
| NC_000012.11:g.1059281A>C , CM000674.1:g.1059281A>C | GRCh37 |
| NC_000012.10:g.929542A>C | NCBI36 |
| NG_017078.1:g.4583T>G | |
| NG_017078.2:g.44927T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001297419.1:c.-18-17039T>G | NP_001284348.1:n.-18-17039T>G |
| ENST00000430095.6:c.-18-17039T>G | ENSP00000387901.2:n.-18-17039T>G |
| XM_005253720.3:c.-18-17039T>G | XP_005253777.1:n.-18-17039T>G |
| XM_005253720.5:c.-18-17039T>G | XP_005253777.1:n.-18-17039T>G |
| XM_017019769.1:c.-18-17039T>G | XP_016875258.1:n.-18-17039T>G |