gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00139579 (MID)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.0014666 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42359988C>T , CM000677.2:g.42359988C>T | GRCh38 |
| NC_000015.9:g.42652186C>T , CM000677.1:g.42652186C>T | GRCh37 |
| NC_000015.8:g.40439478C>T | NCBI36 |
| NG_008660.1:g.16886C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.183C>T | ENSP00000183936.4:p.Phe61= | |
| ENST00000357568.8:c.183C>T | ENSP00000350181.3:p.Phe61= | |
| ENST00000397163.8:c.183C>T MANE Select | ENSP00000380349.3:p.Phe61= | |
| ENST00000466369.5:n.540+5535C>T | ||
| ENST00000483208.5:n.540+5535C>T | ||
| ENST00000495723.1:n.540+5535C>T | ||
| ENST00000549793.5:n.540+5535C>T | ||
| ENST00000318023.11:c.183C>T | ENSP00000326281.8:p.Phe61= | |
| ENST00000349748.7:c.183C>T | ENSP00000183936.4:p.Phe61= | |
| ENST00000357568.7:c.183C>T | ENSP00000350181.3:p.Phe61= | |
| ENST00000397163.7:c.183C>T | ENSP00000380349.3:p.Phe61= | |
| NM_000070.2:c.183C>T | NP_000061.1:p.Phe61= | |
| NM_024344.1:c.183C>T | NP_077320.1:p.Phe61= | |
| NM_173087.1:c.183C>T | NP_775110.1:p.Phe61= | |
| NM_000070.3:c.183C>T MANE Select | NP_000061.1:p.Phe61= | |
| NM_024344.2:c.183C>T | NP_077320.1:p.Phe61= | |
| NM_173087.2:c.183C>T | NP_775110.1:p.Phe61= |