Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99353041A>T , CM000666.2:g.99353041A>T | GRCh38 |
| NC_000004.11:g.100274198A>T , CM000666.1:g.100274198A>T | GRCh37 |
| NC_000004.10:g.100493221A>T | NCBI36 |
| NG_011718.1:g.4720T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000669.4:c.-366T>A | NP_000660.1:n.-366T>A |
| NR_133005.1:n.5T>A | |
| XM_011531589.1:c.-606T>A | XP_011529891.1:n.-606T>A |