gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45267129 (AMR)
Genomes Max Group AF
0.45267129 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119806650A>G , CM000665.2:g.119806650A>G | GRCh38 |
| NC_000003.11:g.119525497A>G , CM000665.1:g.119525497A>G | GRCh37 |
| NC_000003.10:g.121008187A>G | NCBI36 |
| NG_011856.1:g.31167A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393716.8:c.-22-579A>G MANE Select | ENSP00000377319.3:n.-22-579A>G | |
| ENST00000466380.6:c.-22-579A>G | ENSP00000420297.2:n.-22-579A>G | |
| ENST00000648112.1:c.*2-579A>G | ENSP00000497876.1:n.*2-579A>G | |
| ENST00000337940.4:c.96-579A>G | ENSP00000336528.4:n.96-579A>G | |
| ENST00000393716.6:c.-22-579A>G | ENSP00000377319.2:n.-22-579A>G | |
| ENST00000466380.5:c.-22-579A>G | ENSP00000420297.1:n.-22-579A>G | |
| ENST00000474090.1:n.267-579A>G | ||
| NM_003889.3:c.-22-579A>G | NP_003880.3:n.-22-579A>G | |
| NM_022002.2:c.96-579A>G | NP_071285.1:n.96-579A>G | |
| NM_033013.2:c.-22-579A>G | NP_148934.1:n.-22-579A>G | |
| NM_003889.4:c.-22-579A>G MANE Select | NP_003880.3:n.-22-579A>G | |
| NM_022002.3:c.96-579A>G | NP_071285.1:n.96-579A>G | |
| NM_033013.3:c.-22-579A>G | NP_148934.1:n.-22-579A>G |