gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001779 (EAS)
Exomes Max Group AF
0.0000201 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1220640C>T , CM000681.2:g.1220640C>T | GRCh38 |
| NC_000019.9:g.1220639C>T , CM000681.1:g.1220639C>T | GRCh37 |
| NC_000019.8:g.1171639C>T | NCBI36 |
| NG_007460.2:g.36234C>T , LRG_319:g.36234C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.657C>T | ENSP00000490268.2:p.Phe219= | |
| ENST00000585748.3:c.285C>T | ENSP00000477641.2:p.Phe95= | |
| ENST00000585851.2:c.483C>T | ENSP00000467912.2:p.Phe161= | |
| ENST00000326873.12:c.657C>T MANE Select | ENSP00000324856.6:p.Phe219= | |
| ENST00000652231.1:c.657C>T | ENSP00000498804.1:p.Phe219= | |
| ENST00000326873.11:c.657C>T | ENSP00000324856.6:p.Phe219= | |
| ENST00000586243.5:c.657C>T | ENSP00000467240.2:p.Phe219= | |
| ENST00000586358.5:n.555C>T | ||
| ENST00000589152.5:n.747C>T | ||
| ENST00000591133.2:n.628C>T | ||
| NM_000455.4:c.657C>T , LRG_319t1:c.657C>T | NP_000446.1:p.Phe219= | |
| XM_005259617.1:c.657C>T | XP_005259674.1:p.Phe219= | |
| XM_005259618.3:c.657C>T | XP_005259675.1:p.Phe219= | |
| XM_011528209.1:c.435C>T | XP_011526511.1:p.Phe145= | |
| XR_936204.1:n.1282C>T | ||
| XM_005259617.3:c.657C>T | XP_005259674.1:p.Phe219= | |
| XM_011528209.2:c.435C>T | XP_011526511.1:p.Phe145= | |
| XR_001753738.2:n.1282C>T | ||
| XR_001753739.1:n.1282C>T | ||
| XR_001753740.2:n.1282C>T | ||
| NM_000455.5:c.657C>T MANE Select | NP_000446.1:p.Phe219= |