gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27934983 (NFE)
Genomes Max Group AF
0.28480635 (NFE)
Exomes Max Group AF
0.27883075 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158618068G>A , CM000663.2:g.158618068G>A | GRCh38 |
| NC_000001.10:g.158587858G>A , CM000663.1:g.158587858G>A | GRCh37 |
| NC_000001.9:g.156854482G>A | NCBI36 |
| NG_011474.1:g.73649C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.6531-12C>T MANE Select | ENSP00000495214.1:n.6531-12C>T | |
| ENST00000368147.8:c.6531-12C>T | ENSP00000357129.4:n.6531-12C>T | |
| ENST00000492934.1:n.34C>T | ||
| ENST00000614909.4:c.6531-12C>T | ENSP00000482595.1:n.6531-12C>T | |
| NM_003126.2:c.6531-12C>T | NP_003117.2:n.6531-12C>T | |
| XM_011509916.1:c.6531-12C>T | XP_011508218.1:n.6531-12C>T | |
| XM_011509917.1:c.6531-480C>T | XP_011508219.1:n.6531-480C>T | |
| NM_003126.3:c.6531-12C>T | NP_003117.2:n.6531-12C>T | |
| XM_011509916.2:c.6531-12C>T | XP_011508218.1:n.6531-12C>T | |
| XM_011509917.3:c.6531-480C>T | XP_011508219.1:n.6531-480C>T | |
| NM_003126.4:c.6531-12C>T MANE Select | NP_003117.2:n.6531-12C>T |