gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00315799 (AFR)
Genomes Max Group AF
0.0030275 (AFR)
Exomes Max Group AF
0.00300876 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158685198G>A , CM000663.2:g.158685198G>A | GRCh38 |
| NC_000001.10:g.158654988G>A , CM000663.1:g.158654988G>A | GRCh37 |
| NC_000001.9:g.156921612G>A | NCBI36 |
| NG_011474.1:g.6519C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.174C>T MANE Select | ENSP00000495214.1:p.Phe58= | |
| ENST00000368147.8:c.174C>T | ENSP00000357129.4:p.Phe58= | |
| ENST00000467387.1:c.132+42C>T | ENSP00000476485.1:n.132+42C>T | |
| ENST00000614909.4:c.174C>T | ENSP00000482595.1:p.Phe58= | |
| NM_003126.2:c.174C>T | NP_003117.2:p.Phe58= | |
| XM_011509916.1:c.174C>T | XP_011508218.1:p.Phe58= | |
| XM_011509917.1:c.174C>T | XP_011508219.1:p.Phe58= | |
| XM_011509918.1:c.174C>T | XP_011508220.1:p.Phe58= | |
| XM_011509919.1:c.174C>T | XP_011508221.1:p.Phe58= | |
| XR_921911.1:n.287C>T | ||
| XR_921912.1:n.292C>T | ||
| NM_003126.3:c.174C>T | NP_003117.2:p.Phe58= | |
| XM_011509916.2:c.174C>T | XP_011508218.1:p.Phe58= | |
| XM_011509917.3:c.174C>T | XP_011508219.1:p.Phe58= | |
| XM_011509918.3:c.174C>T | XP_011508220.1:p.Phe58= | |
| XM_011509919.3:c.174C>T | XP_011508221.1:p.Phe58= | |
| XR_921911.3:n.300C>T | ||
| XR_921912.2:n.302C>T | ||
| NM_003126.4:c.174C>T MANE Select | NP_003117.2:p.Phe58= |