Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99353042G>T , CM000666.2:g.99353042G>T | GRCh38 |
| NC_000004.11:g.100274199G>T , CM000666.1:g.100274199G>T | GRCh37 |
| NC_000004.10:g.100493222G>T | NCBI36 |
| NG_011718.1:g.4719C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000669.4:c.-367C>A | NP_000660.1:n.-367C>A | |
| NR_133005.1:n.4C>A | ||
| XM_011531589.1:c.-607C>A | XP_011529891.1:n.-607C>A |