Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147773393C>G , CM000663.2:g.147773393C>G | GRCh38 |
| NC_000001.10:g.147245497C>G , CM000663.1:g.147245497C>G | GRCh37 |
| NC_000001.9:g.145712121C>G | NCBI36 |
| NG_009369.2:g.4982G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005272951.3:c.-34+7274G>C | XP_005273008.1:n.-34+7274G>C | |
| XM_011509415.1:c.-2320G>C | XP_011507717.1:n.-2320G>C | |
| XR_922078.1:n.434-4168C>G | ||
| XR_922079.1:n.434-4168C>G | ||
| XM_005272951.4:c.-34+7274G>C | XP_005273008.1:n.-34+7274G>C | |
| XM_017001044.1:c.-2161G>C | XP_016856533.1:n.-2161G>C | |
| XR_922079.3:n.744-4168C>G |