gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18410934 (MID)
Genomes Max Group AF
0.16521786 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18398259A>G , CM000673.2:g.18398259A>G | GRCh38 |
| NC_000011.9:g.18419806A>G , CM000673.1:g.18419806A>G | GRCh37 |
| NC_000011.8:g.18376382A>G | NCBI36 |
| NG_008185.1:g.8825A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422447.8:c.127-1172A>G MANE Select | ENSP00000395337.3:n.127-1172A>G | |
| ENST00000227157.8:c.127-1172A>G | ENSP00000227157.4:n.127-1172A>G | |
| ENST00000379412.9:c.127-1172A>G | ENSP00000368722.5:n.127-1172A>G | |
| ENST00000396222.6:c.127-1172A>G | ENSP00000379524.2:n.127-1172A>G | |
| ENST00000422447.7:c.127-1172A>G | ENSP00000395337.3:n.127-1172A>G | |
| ENST00000430553.6:c.127-1172A>G | ENSP00000406172.2:n.127-1172A>G | |
| ENST00000478970.6:c.127-1172A>G | ENSP00000441241.1:n.127-1172A>G | |
| ENST00000486690.6:c.126+1291A>G | ENSP00000441699.1:n.126+1291A>G | |
| ENST00000494573.6:n.225-1172A>G | ||
| ENST00000495052.5:c.127-1172A>G | ENSP00000446415.1:n.127-1172A>G | |
| ENST00000535451.5:c.127-1172A>G | ENSP00000444292.1:n.127-1172A>G | |
| ENST00000536528.5:c.126+1291A>G | ENSP00000441058.1:n.126+1291A>G | |
| ENST00000539814.5:c.127-1172A>G | ENSP00000442979.1:n.127-1172A>G | |
| ENST00000540430.5:c.214-1172A>G | ENSP00000445175.1:n.214-1172A>G | |
| ENST00000541097.5:c.127-1172A>G | ENSP00000443362.1:n.127-1172A>G | |
| ENST00000542179.1:c.127-1172A>G | ENSP00000445331.1:n.127-1172A>G | |
| ENST00000543445.5:c.127-1172A>G | ENSP00000440161.1:n.127-1172A>G | |
| ENST00000543695.5:c.112+1305A>G | ENSP00000440368.1:n.112+1305A>G | |
| ENST00000545215.5:c.126+1291A>G | ENSP00000442637.1:n.126+1291A>G | |
| ENST00000545467.5:c.127-539A>G | ENSP00000443545.1:n.127-539A>G | |
| ENST00000625635.1:c.112+1305A>G | ENSP00000486249.1:n.112+1305A>G | |
| NM_001135239.1:c.127-1172A>G | NP_001128711.1:n.127-1172A>G | |
| NM_001165414.1:c.214-1172A>G | NP_001158886.1:n.214-1172A>G | |
| NM_001165415.1:c.127-1172A>G | NP_001158887.1:n.127-1172A>G | |
| NM_001165416.1:c.127-1172A>G | NP_001158888.1:n.127-1172A>G | |
| NM_005566.3:c.127-1172A>G | NP_005557.1:n.127-1172A>G | |
| NR_028500.1:n.398+1291A>G | ||
| NM_005566.4:c.127-1172A>G MANE Select | NP_005557.1:n.127-1172A>G | |
| NM_001165415.2:c.127-1172A>G | NP_001158887.1:n.127-1172A>G | |
| NM_001135239.2:c.127-1172A>G | NP_001128711.1:n.127-1172A>G | |
| NM_001165414.2:c.214-1172A>G | NP_001158886.1:n.214-1172A>G | |
| NM_001165416.2:c.127-1172A>G | NP_001158888.1:n.127-1172A>G | |
| NR_028500.2:n.224+1291A>G |