Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150155865A>G , CM000667.2:g.150155865A>G | GRCh38 |
| NC_000005.9:g.149535428A>G , CM000667.1:g.149535428A>G | GRCh37 |
| NC_000005.8:g.149515621A>G | NCBI36 |
| NG_023367.1:g.4995T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523456.1:n.8T>C | ||
| XM_005268464.2:c.-621T>C | XP_005268521.1:n.-621T>C | |
| XM_011537659.1:c.-942T>C | XP_011535961.1:n.-942T>C |