Linked Data
ClinVar Variation Id:
30538
ClinVar RCV Id:
RCV000023495
dbSNP Id:
rs387906927
ExAC:
16:5133683 T / A
gnomAD v2:
16-5133683-T-A
gnomAD v4:
16-5083682-T-A
PubMed:
PMID:20679665
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5083682T>A , CM000678.2:g.5083682T>A | GRCh38 |
| NC_000016.9:g.5133683T>A , CM000678.1:g.5133683T>A | GRCh37 |
| NC_000016.8:g.5073684T>A | NCBI36 |
| NG_009202.1:g.16874T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.3324T>A | ||
| ENST00000682020.1:c.594T>A | ENSP00000508075.1:p.Cys198Ter | |
| ENST00000682206.1:c.*283T>A | ENSP00000508285.1:n.*283T>A | |
| ENST00000682314.1:n.2244T>A | ||
| ENST00000682327.1:c.660T>A | ENSP00000507058.1:p.Cys220Ter | |
| ENST00000682349.1:n.3330T>A | ||
| ENST00000682703.1:n.5164T>A | ||
| ENST00000682797.1:c.*280T>A | ENSP00000507582.1:n.*280T>A | |
| ENST00000682985.1:c.699T>A | ENSP00000507598.1:p.Cys233Ter | |
| ENST00000683433.1:c.447T>A | ENSP00000507463.1:p.Cys149Ter | |
| ENST00000683685.1:n.3070T>A | ||
| ENST00000683710.1:c.*1155T>A | ENSP00000506785.1:n.*1155T>A | |
| ENST00000683739.1:c.855T>A | ENSP00000507002.1:p.Cys285Ter | |
| ENST00000683772.1:n.2240T>A | ||
| ENST00000684008.1:c.1126T>A | ENSP00000507962.1:n.1126T>A | |
| ENST00000684190.1:c.1149T>A | ENSP00000507554.1:p.Cys383Ter | |
| ENST00000684335.1:c.1077T>A | ENSP00000508112.1:p.Cys359Ter | |
| ENST00000262374.10:c.1188T>A MANE Select | ENSP00000262374.5:p.Cys396Ter | |
| ENST00000650085.1:n.2012T>A | ||
| ENST00000262374.9:c.1188T>A | ENSP00000262374.4:p.Cys396Ter | |
| ENST00000544428.1:c.855T>A | ENSP00000440019.1:p.Cys285Ter | |
| ENST00000588623.5:c.855T>A | ENSP00000468118.1:p.Cys285Ter | |
| ENST00000591822.5:c.*1089T>A | ENSP00000467865.1:n.*1089T>A | |
| NM_019109.4:c.1188T>A | NP_061982.3:p.Cys396Ter | |
| XM_011522565.1:c.855T>A | XP_011520867.1:p.Cys285Ter | |
| NM_001330504.1:c.855T>A | NP_001317433.1:p.Cys285Ter | |
| XM_017023457.2:c.1149T>A | XP_016878946.1:p.Cys383Ter | |
| XM_017023458.1:c.855T>A | XP_016878947.1:p.Cys285Ter | |
| XR_932882.3:n.1217T>A | ||
| NM_019109.5:c.1188T>A MANE Select | NP_061982.3:p.Cys396Ter | |
| NM_001330504.2:c.855T>A | NP_001317433.1:p.Cys285Ter |