gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63761264 (AFR)
Genomes Max Group AF
0.63761264 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44900155C>T , CM000681.2:g.44900155C>T | GRCh38 |
| NC_000019.9:g.45403412C>T , CM000681.1:g.45403412C>T | GRCh37 |
| NC_000019.8:g.50095252C>T | NCBI36 |
| NG_042854.1:g.13936C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426677.7:c.644-575C>T MANE Select | ENSP00000410339.1:n.644-575C>T | |
| ENST00000252487.9:c.644-575C>T | ENSP00000252487.4:n.644-575C>T | |
| ENST00000405636.6:c.644-575C>T | ENSP00000385184.2:n.644-575C>T | |
| ENST00000426677.6:c.644-575C>T | ENSP00000410339.1:n.644-575C>T | |
| ENST00000592041.1:c.160-575C>T | ||
| ENST00000592434.5:c.644-575C>T | ENSP00000466084.1:n.644-575C>T | |
| NM_001128916.1:c.644-575C>T | NP_001122388.1:n.644-575C>T | |
| NM_001128917.1:c.644-575C>T | NP_001122389.1:n.644-575C>T | |
| NM_006114.2:c.644-575C>T | NP_006105.1:n.644-575C>T | |
| XM_005258411.2:c.644-575C>T | XP_005258468.1:n.644-575C>T | |
| XM_005258411.4:c.644-575C>T | XP_005258468.1:n.644-575C>T | |
| NM_001128917.2:c.644-575C>T MANE Select | NP_001122389.1:n.644-575C>T | |
| NM_006114.3:c.644-575C>T | NP_006105.1:n.644-575C>T | |
| NM_001128916.2:c.644-575C>T | NP_001122388.1:n.644-575C>T |