gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005798 (MID)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00006092 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8115623G>A , CM000679.2:g.8115623G>A | GRCh38 |
| NC_000017.10:g.8018941G>A , CM000679.1:g.8018941G>A | GRCh37 |
| NC_000017.9:g.7959666G>A | NCBI36 |
| NG_015807.1:g.8294C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318227.4:c.418C>T | ENSP00000314879.4:p.Arg140Ter | |
| ENST00000380149.6:c.418C>T | ENSP00000369494.2:p.Arg140Ter | |
| ENST00000448843.7:c.418C>T MANE Select | ENSP00000400581.2:p.Arg140Ter | |
| ENST00000318227.3:c.814C>T | ENSP00000314879.3:p.Arg272Ter | |
| ENST00000380149.5:c.886C>T | ENSP00000369494.1:p.Arg296Ter | |
| ENST00000448843.6:c.418C>T | ENSP00000400581.2:p.Arg140Ter | |
| NM_001165960.1:c.814C>T | NP_001159432.1:p.Arg272Ter | |
| NM_021628.2:c.418C>T | NP_067641.2:p.Arg140Ter | |
| XM_017024921.2:c.418C>T | XP_016880410.1:p.Arg140Ter | |
| XM_017024922.2:c.418C>T | XP_016880411.1:p.Arg140Ter | |
| XM_017024923.2:c.418C>T | XP_016880412.1:p.Arg140Ter | |
| XM_017024924.2:c.418C>T | XP_016880413.1:p.Arg140Ter | |
| XM_017024925.2:c.418C>T | XP_016880414.1:p.Arg140Ter | |
| XR_001752579.2:n.691C>T | ||
| XR_001752580.2:n.691C>T | ||
| NM_001369446.1:c.418C>T | NP_001356375.1:p.Arg140Ter | |
| NM_021628.3:c.418C>T MANE Select | NP_067641.2:p.Arg140Ter |