gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40341337 (AFR)
Genomes Max Group AF
0.40341337 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1907598C>G , CM000670.2:g.1907598C>G | GRCh38 |
| NC_000008.10:g.1855764C>G , CM000670.1:g.1855764C>G | GRCh37 |
| NC_000008.9:g.1843171C>G | NCBI36 |
| NG_008480.1:g.88616C>G , LRG_234:g.88616C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349830.8:c.1968-1697C>G MANE Select | ENSP00000340297.3:n.1968-1697C>G | |
| ENST00000635773.1:c.2496-1697C>G | ||
| ENST00000635855.1:c.*1922-1697C>G | ENSP00000489726.1:n.*1922-1697C>G | |
| ENST00000349830.7:c.1968-1697C>G | ENSP00000340297.3:n.1968-1697C>G | |
| ENST00000398564.5:c.2043-1697C>G | ENSP00000381571.1:n.2043-1697C>G | |
| ENST00000518288.5:c.2040-1697C>G | ENSP00000431012.1:n.2040-1697C>G | |
| ENST00000520359.5:c.1854-1697C>G | ENSP00000427909.1:n.1854-1697C>G | |
| ENST00000522435.5:c.987-1697C>G | ENSP00000427768.1:n.987-1697C>G | |
| ENST00000523711.5:n.1692-1697C>G | ||
| ENST00000524212.1:n.224-1697C>G | ||
| NM_001308152.1:c.1854-1697C>G | NP_001295081.1:n.1854-1697C>G | |
| NM_001308153.1:c.2040-1697C>G | NP_001295082.1:n.2040-1697C>G | |
| NM_014629.2:c.1968-1697C>G , LRG_234t1:c.1968-1697C>G | NP_055444.2:n.1968-1697C>G | |
| NM_014629.3:c.1968-1697C>G | NP_055444.2:n.1968-1697C>G | |
| XM_005266041.2:c.1971-1697C>G | XP_005266098.1:n.1971-1697C>G | |
| XM_011534766.1:c.1971-1697C>G | XP_011533068.1:n.1971-1697C>G | |
| XM_011534767.1:c.1851-1697C>G | XP_011533069.1:n.1851-1697C>G | |
| XM_011534768.1:c.1971-1697C>G | XP_011533070.1:n.1971-1697C>G | |
| XM_011534769.1:c.1926-1697C>G | XP_011533071.1:n.1926-1697C>G | |
| XM_011534770.1:c.1971-1697C>G | XP_011533072.1:n.1971-1697C>G | |
| XM_005266041.4:c.1971-1697C>G | XP_005266098.1:n.1971-1697C>G | |
| XM_011534767.2:c.1851-1697C>G | XP_011533069.1:n.1851-1697C>G | |
| XM_011534770.2:c.1971-1697C>G | XP_011533072.1:n.1971-1697C>G | |
| XM_017014003.1:c.2043-1697C>G | XP_016869492.1:n.2043-1697C>G | |
| XM_024447334.1:c.1971-1697C>G | XP_024303102.1:n.1971-1697C>G | |
| XM_024447335.1:c.2055-1697C>G | XP_024303103.1:n.2055-1697C>G | |
| NM_014629.4:c.1968-1697C>G MANE Select | NP_055444.2:n.1968-1697C>G | |
| NM_001308152.2:c.1854-1697C>G | NP_001295081.1:n.1854-1697C>G | |
| NM_001308153.2:c.2040-1697C>G | NP_001295082.1:n.2040-1697C>G |