Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99353036T>C , CM000666.2:g.99353036T>C | GRCh38 |
| NC_000004.11:g.100274193T>C , CM000666.1:g.100274193T>C | GRCh37 |
| NC_000004.10:g.100493216T>C | NCBI36 |
| NG_011718.1:g.4725A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000669.4:c.-361A>G | NP_000660.1:n.-361A>G |
| NR_133005.1:n.10A>G | |
| XM_011531589.1:c.-601A>G | XP_011529891.1:n.-601A>G |