gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10931974 (NFE)
Genomes Max Group AF
0.10964973 (NFE)
Exomes Max Group AF
0.10916112 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46231706C>T , CM000684.2:g.46231706C>T | GRCh38 |
| NC_000022.10:g.46627603C>T , CM000684.1:g.46627603C>T | GRCh37 |
| NC_000022.9:g.45006267C>T | NCBI36 |
| NG_012204.1:g.86105C>T | |
| NG_012204.2:g.86173C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407236.6:c.712-86C>T MANE Select | ENSP00000385523.1:n.712-86C>T | |
| ENST00000262735.9:c.712-86C>T | ENSP00000262735.5:n.712-86C>T | |
| ENST00000402126.1:c.712-86C>T | ENSP00000385246.1:n.712-86C>T | |
| ENST00000407236.5:c.712-86C>T | ENSP00000385523.1:n.712-86C>T | |
| NM_001001928.2:c.712-86C>T | NP_001001928.1:n.712-86C>T | |
| NM_005036.4:c.712-86C>T | NP_005027.2:n.712-86C>T | |
| XM_005261655.2:c.712-86C>T | XP_005261712.1:n.712-86C>T | |
| XM_005261656.2:c.712-86C>T | XP_005261713.1:n.712-86C>T | |
| XM_006724269.2:c.712-86C>T | XP_006724332.1:n.712-86C>T | |
| XM_006724270.2:c.712-86C>T | XP_006724333.1:n.712-86C>T | |
| XM_011530239.1:c.712-86C>T | XP_011528541.1:n.712-86C>T | |
| XM_011530240.1:c.712-86C>T | XP_011528542.1:n.712-86C>T | |
| XM_011530241.1:c.712-86C>T | XP_011528543.1:n.712-86C>T | |
| XM_011530242.1:c.712-86C>T | XP_011528544.1:n.712-86C>T | |
| XM_011530243.1:c.712-86C>T | XP_011528545.1:n.712-86C>T | |
| XM_011530244.1:c.310-86C>T | XP_011528546.1:n.310-86C>T | |
| XM_011530245.1:c.310-86C>T | XP_011528547.1:n.310-86C>T | |
| XR_937869.1:n.828-86C>T | ||
| XR_937870.1:n.823-86C>T | ||
| NM_001001928.3:c.712-86C>T | NP_001001928.1:n.712-86C>T | |
| NM_001362872.1:c.712-86C>T | NP_001349801.1:n.712-86C>T | |
| NM_001362873.1:c.712-86C>T | NP_001349802.1:n.712-86C>T | |
| NM_005036.5:c.712-86C>T | NP_005027.2:n.712-86C>T | |
| XM_005261656.3:c.712-86C>T | XP_005261713.1:n.712-86C>T | |
| XM_006724270.3:c.712-86C>T | XP_006724333.1:n.712-86C>T | |
| XM_011530239.2:c.712-86C>T | XP_011528541.1:n.712-86C>T | |
| XM_011530240.2:c.712-86C>T | XP_011528542.1:n.712-86C>T | |
| XM_011530241.2:c.712-86C>T | XP_011528543.1:n.712-86C>T | |
| XM_011530242.2:c.712-86C>T | XP_011528544.1:n.712-86C>T | |
| XM_011530243.2:c.712-86C>T | XP_011528545.1:n.712-86C>T | |
| XM_011530244.2:c.310-86C>T | XP_011528546.1:n.310-86C>T | |
| XM_011530245.2:c.310-86C>T | XP_011528547.1:n.310-86C>T | |
| XM_017028839.1:c.310-86C>T | XP_016884328.1:n.310-86C>T | |
| XM_024452252.1:c.310-86C>T | XP_024308020.1:n.310-86C>T | |
| XM_024452253.1:c.103-86C>T | XP_024308021.1:n.103-86C>T | |
| XR_001755253.1:n.1034-86C>T | ||
| XR_937869.2:n.831-86C>T | ||
| XR_937870.2:n.827-86C>T | ||
| NM_001362872.2:c.712-86C>T | NP_001349801.1:n.712-86C>T | |
| NM_005036.6:c.712-86C>T MANE Select | NP_005027.2:n.712-86C>T | |
| NM_001001928.4:c.712-86C>T | NP_001001928.1:n.712-86C>T | |
| NM_001001929.3:c.712-86C>T | NP_001001929.1:n.712-86C>T | |
| NM_001362873.3:c.712-86C>T | NP_001349802.1:n.712-86C>T | |
| NM_001393941.1:c.712-86C>T | NP_001380870.1:n.712-86C>T | |
| NM_001393942.1:c.712-86C>T | NP_001380871.1:n.712-86C>T | |
| NM_001393943.1:c.712-86C>T | NP_001380872.1:n.712-86C>T | |
| NM_001393944.1:c.712-86C>T | NP_001380873.1:n.712-86C>T | |
| NM_001393945.1:c.712-86C>T | NP_001380874.1:n.712-86C>T | |
| NM_001393946.1:c.697-86C>T | NP_001380875.1:n.697-86C>T | |
| NM_001393947.1:c.509-3427C>T | NP_001380876.1:n.509-3427C>T |