Linked Data
ClinVar Variation Id:
166785
dbSNP Id:
rs1801324
ExAC:
15:42678480 C / T
gnomAD v2:
15-42678480-C-T
gnomAD v3:
15-42386282-C-T
gnomAD v4:
15-42386282-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42386282C>T , CM000677.2:g.42386282C>T | GRCh38 |
| NC_000015.9:g.42678480C>T , CM000677.1:g.42678480C>T | GRCh37 |
| NC_000015.8:g.40465772C>T | NCBI36 |
| NG_008660.1:g.43180C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349748.8:c.495C>T | ENSP00000183936.4:p.Phe165= | |
| ENST00000357568.8:c.495C>T | ENSP00000350181.3:p.Phe165= | |
| ENST00000397163.8:c.495C>T MANE Select | ENSP00000380349.3:p.Phe165= | |
| ENST00000466369.5:n.1004C>T | ||
| ENST00000483208.5:n.726C>T | ||
| ENST00000495723.1:n.726C>T | ||
| ENST00000549793.5:n.726C>T | ||
| ENST00000638141.2:n.510C>T | ||
| ENST00000673705.1:c.70+1730C>T | ENSP00000501021.1:n.70+1730C>T | |
| ENST00000318023.11:c.495C>T | ENSP00000326281.8:p.Phe165= | |
| ENST00000349748.7:c.495C>T | ENSP00000183936.4:p.Phe165= | |
| ENST00000357568.7:c.495C>T | ENSP00000350181.3:p.Phe165= | |
| ENST00000397163.7:c.495C>T | ENSP00000380349.3:p.Phe165= | |
| NM_000070.2:c.495C>T | NP_000061.1:p.Phe165= | |
| NM_024344.1:c.495C>T | NP_077320.1:p.Phe165= | |
| NM_173087.1:c.495C>T | NP_775110.1:p.Phe165= | |
| NM_000070.3:c.495C>T MANE Select | NP_000061.1:p.Phe165= | |
| NM_024344.2:c.495C>T | NP_077320.1:p.Phe165= | |
| NM_173087.2:c.495C>T | NP_775110.1:p.Phe165= |