Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99353030G>T , CM000666.2:g.99353030G>T | GRCh38 |
| NC_000004.11:g.100274187G>T , CM000666.1:g.100274187G>T | GRCh37 |
| NC_000004.10:g.100493210G>T | NCBI36 |
| NG_011718.1:g.4731C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_000669.4:c.-355C>A | NP_000660.1:n.-355C>A | |
| NR_133005.1:n.16C>A | ||
| XM_011531589.1:c.-595C>A | XP_011529891.1:n.-595C>A |