gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6274424 (AFR)
Genomes Max Group AF
0.6260789 (AFR)
Exomes Max Group AF
0.62354742 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92470155C>T , CM000672.2:g.92470155C>T | GRCh38 |
| NC_000010.10:g.94229912C>T , CM000672.1:g.94229912C>T | GRCh37 |
| NC_000010.9:g.94219892C>T | NCBI36 |
| NG_013012.1:g.108941G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650060.2:c.2208+99G>A | ENSP00000497272.1:n.2208+99G>A | |
| ENST00000265986.11:c.2208+99G>A MANE Select | ENSP00000265986.6:n.2208+99G>A | |
| ENST00000650060.1:c.2208+99G>A | ENSP00000497272.1:n.2208+99G>A | |
| ENST00000676540.1:c.2208+99G>A | ENSP00000504633.1:n.2208+99G>A | |
| ENST00000676626.1:n.3094+99G>A | ||
| ENST00000676816.1:c.2208+99G>A | ENSP00000504709.1:n.2208+99G>A | |
| ENST00000676987.1:n.907G>A | ||
| ENST00000677079.1:c.2208+99G>A | ENSP00000503417.1:n.2208+99G>A | |
| ENST00000677096.1:c.*2204+99G>A | ENSP00000503793.1:n.*2204+99G>A | |
| ENST00000677193.1:n.2004G>A | ||
| ENST00000677434.1:c.*451+99G>A | ENSP00000503274.1:n.*451+99G>A | |
| ENST00000677569.1:c.*905+99G>A | ENSP00000503462.1:n.*905+99G>A | |
| ENST00000678026.1:n.3094+99G>A | ||
| ENST00000678082.1:n.527+99G>A | ||
| ENST00000678248.1:n.2529G>A | ||
| ENST00000678458.1:n.2200+99G>A | ||
| ENST00000678673.1:c.2208+99G>A | ENSP00000503082.1:n.2208+99G>A | |
| ENST00000678715.1:c.2085+99G>A | ENSP00000503025.1:n.2085+99G>A | |
| ENST00000678824.1:c.435+99G>A | ENSP00000503571.1:n.435+99G>A | |
| ENST00000678844.1:c.*502+99G>A | ENSP00000504561.1:n.*502+99G>A | |
| ENST00000678977.1:n.3783+99G>A | ||
| ENST00000679069.1:n.3780+99G>A | ||
| ENST00000679089.1:c.2208+99G>A | ENSP00000504067.1:n.2208+99G>A | |
| ENST00000679174.1:c.*961+99G>A | ENSP00000504758.1:n.*961+99G>A | |
| ENST00000679222.1:c.*760+99G>A | ENSP00000504070.1:n.*760+99G>A | |
| ENST00000679232.1:c.*2255+99G>A | ENSP00000503818.1:n.*2255+99G>A | |
| ENST00000679304.1:n.1882+99G>A | ||
| ENST00000679312.1:c.*314+99G>A | ENSP00000504442.1:n.*314+99G>A | |
| ENST00000265986.10:c.2208+99G>A | ENSP00000265986.6:n.2208+99G>A | |
| ENST00000371581.9:c.543+99G>A | ENSP00000360637.5:n.543+99G>A | |
| ENST00000496903.5:n.840+99G>A | ||
| NM_001165946.1:c.543+99G>A | NP_001159418.1:n.543+99G>A | |
| NM_004969.3:c.2208+99G>A | NP_004960.2:n.2208+99G>A | |
| XM_005269766.2:c.2208+99G>A | XP_005269823.1:n.2208+99G>A | |
| NM_001322793.1:c.2208+99G>A | NP_001309722.1:n.2208+99G>A | |
| NM_001322794.1:c.2091+99G>A | NP_001309723.1:n.2091+99G>A | |
| NM_001322795.1:c.2085+99G>A | NP_001309724.1:n.2085+99G>A | |
| NM_001322796.1:c.2085+99G>A | NP_001309725.1:n.2085+99G>A | |
| NM_001322797.1:c.543+99G>A | NP_001309726.1:n.543+99G>A | |
| NR_136399.1:n.2408+99G>A | ||
| XM_017016187.1:c.2085+99G>A | XP_016871676.1:n.2085+99G>A | |
| XM_017016188.1:c.2085+99G>A | XP_016871677.1:n.2085+99G>A | |
| XM_017016189.1:c.2085+99G>A | XP_016871678.1:n.2085+99G>A | |
| XM_017016190.1:c.2085+99G>A | XP_016871679.1:n.2085+99G>A | |
| NM_004969.4:c.2208+99G>A MANE Select | NP_004960.2:n.2208+99G>A | |
| NM_001165946.2:c.543+99G>A | NP_001159418.1:n.543+99G>A | |
| NM_001322793.2:c.2208+99G>A | NP_001309722.1:n.2208+99G>A | |
| NM_001322794.2:c.2091+99G>A | NP_001309723.1:n.2091+99G>A | |
| NM_001322795.2:c.2085+99G>A | NP_001309724.1:n.2085+99G>A | |
| NM_001322797.2:c.543+99G>A | NP_001309726.1:n.543+99G>A | |
| NR_136399.2:n.2406+99G>A |