gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00224582 (AFR)
Genomes Max Group AF
0.00213381 (AFR)
Exomes Max Group AF
0.00210147 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39013676A>C , CM000664.2:g.39013676A>C | GRCh38 |
| NC_000002.11:g.39240817A>C , CM000664.1:g.39240817A>C | GRCh37 |
| NC_000002.10:g.39094321A>C | NCBI36 |
| NG_007530.1:g.111788T>G , LRG_754:g.111788T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.831-113T>G | ENSP00000509424.1:n.831-113T>G | |
| ENST00000688043.1:n.2285-113T>G | ||
| ENST00000689668.1:n.2071-113T>G | ||
| ENST00000690514.1:n.40T>G | ||
| ENST00000690876.1:c.1953-113T>G | ENSP00000508955.1:n.1953-113T>G | |
| ENST00000691229.1:c.1953-113T>G | ENSP00000510437.1:n.1953-113T>G | |
| ENST00000692089.1:c.1953-113T>G | ENSP00000508626.1:n.1953-113T>G | |
| ENST00000692620.1:c.831-113T>G | ENSP00000509311.1:n.831-113T>G | |
| ENST00000402219.8:c.2064-113T>G MANE Select | ENSP00000384675.2:n.2064-113T>G | |
| ENST00000395038.6:c.2064-113T>G | ENSP00000378479.2:n.2064-113T>G | |
| ENST00000402219.6:c.2064-113T>G | ENSP00000384675.2:n.2064-113T>G | |
| ENST00000426016.5:c.2064-113T>G | ENSP00000387784.1:n.2064-113T>G | |
| NM_005633.3:c.2064-113T>G , LRG_754t1:c.2064-113T>G | NP_005624.2:n.2064-113T>G | |
| XM_005264515.3:c.2064-113T>G | XP_005264572.1:n.2064-113T>G | |
| XM_011533060.1:c.2157-113T>G | XP_011531362.1:n.2157-113T>G | |
| XM_011533061.1:c.2157-113T>G | XP_011531363.1:n.2157-113T>G | |
| XM_011533062.1:c.2043-113T>G | XP_011531364.1:n.2043-113T>G | |
| XM_011533063.1:c.2040-113T>G | XP_011531365.1:n.2040-113T>G | |
| XM_011533064.1:c.1893-113T>G | XP_011531366.1:n.1893-113T>G | |
| XM_011533065.1:c.2157-113T>G | XP_011531367.1:n.2157-113T>G | |
| XM_011533066.1:c.999-113T>G | XP_011531368.1:n.999-113T>G | |
| XM_005264515.4:c.2064-113T>G | XP_005264572.1:n.2064-113T>G | |
| XM_011533062.2:c.2043-113T>G | XP_011531364.1:n.2043-113T>G | |
| XM_011533064.2:c.1893-113T>G | XP_011531366.1:n.1893-113T>G | |
| NM_001382394.1:c.2043-113T>G | NP_001369323.1:n.2043-113T>G | |
| NM_001382395.1:c.2064-113T>G | NP_001369324.1:n.2064-113T>G | |
| NM_005633.4:c.2064-113T>G MANE Select | NP_005624.2:n.2064-113T>G |