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