Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1801372A>G , CM000667.2:g.1801372A>G | GRCh38 |
| NC_000005.9:g.1801486A>G , CM000667.1:g.1801486A>G | GRCh37 |
| NC_000005.8:g.1854486A>G | NCBI36 |
| NG_013354.1:g.4991A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011514080.1:c.-6T>C | XP_011512382.1:n.-6T>C |
| XM_011514080.2:c.-6T>C | XP_011512382.1:n.-6T>C |