Linked Data
ClinVar Variation Id:
30539
dbSNP Id:
rs151173406
ExAC:
16:5128843 C / T
gnomAD v2:
16-5128843-C-T
gnomAD v3:
16-5078842-C-T
gnomAD v4:
16-5078842-C-T
PubMed:
PMID:20679665
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5078842C>T , CM000678.2:g.5078842C>T | GRCh38 |
| NC_000016.9:g.5128843C>T , CM000678.1:g.5128843C>T | GRCh37 |
| NC_000016.8:g.5068844C>T | NCBI36 |
| NG_009202.1:g.12034C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000592793.6:n.2964C>T | ||
| ENST00000682020.1:c.232C>T | ENSP00000508075.1:p.Arg78Trp | |
| ENST00000682206.1:c.826C>T | ENSP00000508285.1:p.Arg276Trp | |
| ENST00000682314.1:n.870C>T | ||
| ENST00000682327.1:c.337C>T | ENSP00000507058.1:p.Arg113Trp | |
| ENST00000682349.1:n.2964C>T | ||
| ENST00000682703.1:n.2964C>T | ||
| ENST00000682797.1:c.826C>T | ENSP00000507582.1:p.Arg276Trp | |
| ENST00000682985.1:c.337C>T | ENSP00000507598.1:p.Arg113Trp | |
| ENST00000683433.1:c.121C>T | ENSP00000507463.1:p.Arg41Trp | |
| ENST00000683685.1:n.870C>T | ||
| ENST00000683710.1:c.*789C>T | ENSP00000506785.1:n.*789C>T | |
| ENST00000683739.1:c.493C>T | ENSP00000507002.1:p.Arg165Trp | |
| ENST00000683772.1:n.870C>T | ||
| ENST00000684008.1:c.760C>T | ENSP00000507962.1:p.Arg254Trp | |
| ENST00000684190.1:c.826C>T | ENSP00000507554.1:p.Arg276Trp | |
| ENST00000684335.1:c.826C>T | ENSP00000508112.1:p.Arg276Trp | |
| ENST00000262374.10:c.826C>T MANE Select | ENSP00000262374.5:p.Arg276Trp | |
| ENST00000650085.1:n.1646C>T | ||
| ENST00000262374.9:c.826C>T | ENSP00000262374.4:p.Arg276Trp | |
| ENST00000544428.1:c.493C>T | ENSP00000440019.1:p.Arg165Trp | |
| ENST00000588623.5:c.493C>T | ENSP00000468118.1:p.Arg165Trp | |
| ENST00000591783.5:c.493C>T | ENSP00000464700.1:p.Arg165Trp | |
| ENST00000591822.5:c.*727C>T | ENSP00000467865.1:n.*727C>T | |
| NM_019109.4:c.826C>T | NP_061982.3:p.Arg276Trp | |
| XM_011522565.1:c.493C>T | XP_011520867.1:p.Arg165Trp | |
| XR_932882.1:n.867C>T | ||
| NM_001330504.1:c.493C>T | NP_001317433.1:p.Arg165Trp | |
| XM_017023457.2:c.826C>T | XP_016878946.1:p.Arg276Trp | |
| XM_017023458.1:c.493C>T | XP_016878947.1:p.Arg165Trp | |
| XR_932882.3:n.851C>T | ||
| NM_019109.5:c.826C>T MANE Select | NP_061982.3:p.Arg276Trp | |
| NM_001330504.2:c.493C>T | NP_001317433.1:p.Arg165Trp |