gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30012873 (AFR)
Genomes Max Group AF
0.30012873 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.59943125A>G , CM000665.2:g.59943125A>G | GRCh38 |
| NC_000003.11:g.59928851A>G , CM000665.1:g.59928851A>G | GRCh37 |
| NC_000003.10:g.59903891A>G | NCBI36 |
| NG_007551.1:g.1313283T>C | |
| NG_007551.2:g.1313335T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492590.6:c.280-20711T>C MANE Select | ENSP00000418582.1:n.280-20711T>C | |
| ENST00000466788.1:n.307-20711T>C | ||
| ENST00000468189.5:c.280-20711T>C | ENSP00000417480.1:n.280-20711T>C | |
| ENST00000476844.5:c.280-20711T>C | ENSP00000417557.1:n.280-20711T>C | |
| ENST00000492590.5:c.280-20711T>C | ENSP00000418582.1:n.280-20711T>C | |
| NM_001166243.1:c.280-20711T>C | NP_001159715.1:n.280-20711T>C | |
| NM_002012.2:c.280-20711T>C | NP_002003.1:n.280-20711T>C | |
| XM_011533481.1:c.280-20711T>C | XP_011531783.1:n.280-20711T>C | |
| XM_011533482.1:c.280-20711T>C | XP_011531784.1:n.280-20711T>C | |
| XM_011533483.1:c.280-20711T>C | XP_011531785.1:n.280-20711T>C | |
| XM_011533484.1:c.280-20711T>C | XP_011531786.1:n.280-20711T>C | |
| XM_011533485.1:c.280-20711T>C | XP_011531787.1:n.280-20711T>C | |
| XM_011533486.1:c.279+68246T>C | XP_011531788.1:n.279+68246T>C | |
| NM_001166243.2:c.280-20711T>C | NP_001159715.1:n.280-20711T>C | |
| NM_001320899.1:c.280-20711T>C | NP_001307828.1:n.280-20711T>C | |
| NM_001320900.1:c.280-20711T>C | NP_001307829.1:n.280-20711T>C | |
| NM_001320901.1:c.112-20711T>C | NP_001307830.1:n.112-20711T>C | |
| NM_001354589.1:c.279+68246T>C | NP_001341518.1:n.279+68246T>C | |
| NM_001354590.1:c.279+68246T>C | NP_001341519.1:n.279+68246T>C | |
| NM_002012.3:c.280-20711T>C | NP_002003.1:n.280-20711T>C | |
| NR_135491.1:n.594-20711T>C | ||
| XM_017005880.2:c.330-20711T>C | XP_016861369.1:n.330-20711T>C | |
| XM_017005881.2:c.330-20711T>C | XP_016861370.1:n.330-20711T>C | |
| XM_017005882.2:c.315-20711T>C | XP_016861371.1:n.315-20711T>C | |
| XM_017005883.1:c.330-20711T>C | XP_016861372.1:n.330-20711T>C | |
| XM_017005884.1:c.330-20711T>C | XP_016861373.1:n.330-20711T>C | |
| XM_017005885.2:c.87-20711T>C | XP_016861374.1:n.87-20711T>C | |
| XM_017005886.2:c.87-20711T>C | XP_016861375.1:n.87-20711T>C | |
| NM_002012.4:c.280-20711T>C MANE Select | NP_002003.1:n.280-20711T>C | |
| NM_001166243.3:c.280-20711T>C | NP_001159715.1:n.280-20711T>C | |
| NM_001320899.2:c.280-20711T>C | NP_001307828.1:n.280-20711T>C | |
| NM_001320900.2:c.280-20711T>C | NP_001307829.1:n.280-20711T>C | |
| NM_001320901.2:c.112-20711T>C | NP_001307830.1:n.112-20711T>C | |
| NM_001354589.2:c.279+68246T>C | NP_001341518.1:n.279+68246T>C | |
| NM_001354590.2:c.279+68246T>C | NP_001341519.1:n.279+68246T>C | |
| NR_135491.2:n.376-20711T>C |