gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38147197 (AFR)
Genomes Max Group AF
0.38147197 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.85910833A>G , CM000678.2:g.85910833A>G | GRCh38 |
| NC_000016.9:g.85944439A>G , CM000678.1:g.85944439A>G | GRCh37 |
| NC_000016.8:g.84501940A>G | NCBI36 |
| NG_029333.1:g.16666A>G , LRG_294:g.16666A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000564803.6:c.359-737A>G | ENSP00000456992.2:n.359-737A>G | |
| ENST00000566369.2:c.359-737A>G | ENSP00000455048.2:n.359-737A>G | |
| ENST00000696884.1:c.359-737A>G | ENSP00000512951.1:n.359-737A>G | |
| ENST00000696885.1:c.*836+479A>G | ENSP00000512952.1:n.*836+479A>G | |
| ENST00000696886.1:n.1755A>G | ||
| ENST00000696887.1:c.359-737A>G | ENSP00000512953.1:n.359-737A>G | |
| ENST00000696888.1:n.408-737A>G | ||
| ENST00000696889.1:n.352-737A>G | ||
| ENST00000696890.1:n.306-737A>G | ||
| ENST00000268638.10:c.359-737A>G MANE Select | ENSP00000268638.4:n.359-737A>G | |
| ENST00000268638.9:c.359-737A>G | ENSP00000268638.4:n.359-737A>G | |
| ENST00000564056.1:n.244-737A>G | ||
| ENST00000564617.5:c.359-737A>G | ENSP00000455784.1:n.359-737A>G | |
| ENST00000564803.5:c.359-737A>G | ENSP00000456992.1:n.359-737A>G | |
| ENST00000566369.1:c.187-737A>G | ||
| NM_002163.2:c.359-737A>G , LRG_294t1:c.359-737A>G | NP_002154.1:n.359-737A>G | |
| NM_001363907.1:c.389-737A>G | NP_001350836.1:n.389-737A>G | |
| NM_001363908.1:c.-148-737A>G | NP_001350837.1:n.-148-737A>G | |
| NM_002163.3:c.359-737A>G | NP_002154.1:n.359-737A>G | |
| NM_002163.4:c.359-737A>G MANE Select | NP_002154.1:n.359-737A>G |