gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12931487 (NFE)
Genomes Max Group AF
0.12931487 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.82929158A>T , CM000678.2:g.82929158A>T | GRCh38 |
| NC_000016.9:g.82962763A>T , CM000678.1:g.82962763A>T | GRCh37 |
| NC_000016.8:g.81520264A>T | NCBI36 |
| NG_052819.1:g.307365A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567109.6:c.157+70685A>T MANE Select | ENSP00000479395.1:n.157+70685A>T | |
| ENST00000268613.14:c.298+70685A>T | ENSP00000268613.10:n.298+70685A>T | |
| ENST00000428848.7:c.157+70685A>T | ENSP00000394557.3:n.157+70685A>T | |
| ENST00000431540.7:c.157+70685A>T | ENSP00000408632.3:n.157+70685A>T | |
| ENST00000539548.6:c.157+70685A>T | ENSP00000442225.2:n.157+70685A>T | |
| ENST00000562601.5:c.*166+70685A>T | ENSP00000455781.1:n.*166+70685A>T | |
| ENST00000565636.5:c.157+70685A>T | ENSP00000456491.1:n.157+70685A>T | |
| ENST00000566333.1:n.279+70685A>T | ||
| ENST00000566620.5:c.121+70685A>T | ENSP00000454435.3:n.121+70685A>T | |
| ENST00000567109.5:c.157+70685A>T | ENSP00000479395.1:n.157+70685A>T | |
| ENST00000568770.5:c.*157+70685A>T | ENSP00000457149.1:n.*157+70685A>T | |
| ENST00000569144.5:c.*150+44657A>T | ENSP00000457914.1:n.*150+44657A>T | |
| ENST00000569454.1:n.74+3127A>T | ||
| ENST00000622885.4:c.118+70685A>T | ENSP00000483719.1:n.118+70685A>T | |
| NM_001220488.1:c.298+70685A>T | NP_001207417.1:n.298+70685A>T | |
| NM_001220489.1:c.157+70685A>T | NP_001207418.1:n.157+70685A>T | |
| NM_001220490.1:c.-397+70685A>T | NP_001207419.1:n.-397+70685A>T | |
| NM_001220491.1:c.157+70685A>T | NP_001207420.1:n.157+70685A>T | |
| NM_001220492.1:c.157+70685A>T | NP_001207421.1:n.157+70685A>T | |
| NM_001257.4:c.157+70685A>T | NP_001248.1:n.157+70685A>T | |
| XM_011522805.1:c.298+70685A>T | XP_011521107.1:n.298+70685A>T | |
| XM_017022848.2:c.298+70685A>T | XP_016878337.1:n.298+70685A>T | |
| XM_017022849.2:c.298+70685A>T | XP_016878338.1:n.298+70685A>T | |
| NM_001257.5:c.157+70685A>T MANE Select | NP_001248.1:n.157+70685A>T | |
| NM_001220488.2:c.298+70685A>T | NP_001207417.1:n.298+70685A>T | |
| NM_001220489.2:c.157+70685A>T | NP_001207418.1:n.157+70685A>T | |
| NM_001220490.2:c.-397+70685A>T | NP_001207419.1:n.-397+70685A>T | |
| NM_001220491.2:c.157+70685A>T | NP_001207420.1:n.157+70685A>T | |
| NM_001220492.2:c.157+70685A>T | NP_001207421.1:n.157+70685A>T |