gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25791646 (AFR)
Genomes Max Group AF
0.25791646 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.85917080A>G , CM000678.2:g.85917080A>G | GRCh38 |
| NC_000016.9:g.85950686A>G , CM000678.1:g.85950686A>G | GRCh37 |
| NC_000016.8:g.84508187A>G | NCBI36 |
| NG_029333.1:g.22913A>G , LRG_294:g.22913A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000564803.6:c.602-1337A>G | ENSP00000456992.2:n.602-1337A>G | |
| ENST00000566369.2:c.448-3029A>G | ENSP00000455048.2:n.448-3029A>G | |
| ENST00000569607.2:c.-11-1337A>G | ENSP00000456395.2:n.-11-1337A>G | |
| ENST00000696884.1:c.*34-1337A>G | ENSP00000512951.1:n.*34-1337A>G | |
| ENST00000696885.1:c.*1080-1337A>G | ENSP00000512952.1:n.*1080-1337A>G | |
| ENST00000696886.1:n.2735-1337A>G | ||
| ENST00000696887.1:c.602-1337A>G | ENSP00000512953.1:n.602-1337A>G | |
| ENST00000696890.1:n.549-1337A>G | ||
| ENST00000268638.10:c.602-1337A>G MANE Select | ENSP00000268638.4:n.602-1337A>G | |
| ENST00000268638.9:c.602-1337A>G | ENSP00000268638.4:n.602-1337A>G | |
| ENST00000562492.5:c.-11-1337A>G | ENSP00000455452.1:n.-11-1337A>G | |
| ENST00000564803.5:c.602-1337A>G | ENSP00000456992.1:n.602-1337A>G | |
| ENST00000566369.1:c.276-3029A>G | ||
| ENST00000569145.5:c.-30-1337A>G | ENSP00000455760.1:n.-30-1337A>G | |
| ENST00000569607.1:c.-11-1337A>G | ENSP00000456395.1:n.-11-1337A>G | |
| NM_002163.2:c.602-1337A>G , LRG_294t1:c.602-1337A>G | NP_002154.1:n.602-1337A>G | |
| XM_011523064.1:c.-11-1337A>G | XP_011521366.1:n.-11-1337A>G | |
| NM_001363907.1:c.632-1337A>G | NP_001350836.1:n.632-1337A>G | |
| NM_001363908.1:c.-11-1337A>G | NP_001350837.1:n.-11-1337A>G | |
| NM_002163.3:c.602-1337A>G | NP_002154.1:n.602-1337A>G | |
| NM_002163.4:c.602-1337A>G MANE Select | NP_002154.1:n.602-1337A>G |