gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99352965C>T , CM000666.2:g.99352965C>T | GRCh38 |
| NC_000004.11:g.100274122C>T , CM000666.1:g.100274122C>T | GRCh37 |
| NC_000004.10:g.100493145C>T | NCBI36 |
| NG_011718.1:g.4796G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.5:c.-290G>A | ENSP00000426083.1:n.-290G>A | |
| NM_000669.4:c.-290G>A | NP_000660.1:n.-290G>A | |
| NR_133005.1:n.81G>A | ||
| XM_011531588.1:c.-290G>A | XP_011529890.1:n.-290G>A | |
| XM_011531589.1:c.-530G>A | XP_011529891.1:n.-530G>A |