Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99353034C>A , CM000666.2:g.99353034C>A | GRCh38 |
| NC_000004.11:g.100274191C>A , CM000666.1:g.100274191C>A | GRCh37 |
| NC_000004.10:g.100493214C>A | NCBI36 |
| NG_011718.1:g.4727G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000669.4:c.-359G>T | NP_000660.1:n.-359G>T | |
| NR_133005.1:n.12G>T | ||
| XM_011531589.1:c.-599G>T | XP_011529891.1:n.-599G>T |