gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07299235 (SAS)
Genomes Max Group AF
0.07299235 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32065510A>G , CM000684.2:g.32065510A>G | GRCh38 |
| NC_000022.10:g.32461497A>G , CM000684.1:g.32461497A>G | GRCh37 |
| NC_000022.9:g.30791497A>G | NCBI36 |
| NG_017045.1:g.27479A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.208-1425A>G MANE Select | ENSP00000266088.4:n.208-1425A>G | |
| ENST00000266088.8:c.208-1425A>G | ENSP00000266088.4:n.208-1425A>G | |
| ENST00000543737.2:c.-174-1425A>G | ENSP00000444898.1:n.-174-1425A>G | |
| NM_000343.3:c.208-1425A>G | NP_000334.1:n.208-1425A>G | |
| NM_001256314.1:c.-174-1425A>G | NP_001243243.1:n.-174-1425A>G | |
| XM_011530331.1:c.208-1425A>G | XP_011528633.1:n.208-1425A>G | |
| NM_000343.4:c.208-1425A>G MANE Select | NP_000334.1:n.208-1425A>G | |
| NM_001256314.2:c.-174-1425A>G | NP_001243243.1:n.-174-1425A>G |