Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99353032G>C , CM000666.2:g.99353032G>C | GRCh38 |
| NC_000004.11:g.100274189G>C , CM000666.1:g.100274189G>C | GRCh37 |
| NC_000004.10:g.100493212G>C | NCBI36 |
| NG_011718.1:g.4729C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000669.4:c.-357C>G | NP_000660.1:n.-357C>G | |
| NR_133005.1:n.14C>G | ||
| XM_011531589.1:c.-597C>G | XP_011529891.1:n.-597C>G |