gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99352936A>T , CM000666.2:g.99352936A>T | GRCh38 |
| NC_000004.11:g.100274093A>T , CM000666.1:g.100274093A>T | GRCh37 |
| NC_000004.10:g.100493116A>T | NCBI36 |
| NG_011718.1:g.4825T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.5:c.-261T>A | ENSP00000426083.1:n.-261T>A | |
| NM_000669.4:c.-261T>A | NP_000660.1:n.-261T>A | |
| NR_133005.1:n.110T>A | ||
| XM_011531588.1:c.-261T>A | XP_011529890.1:n.-261T>A | |
| XM_011531589.1:c.-501T>A | XP_011529891.1:n.-501T>A |