Linked Data
ClinVar Variation Id:
426074
ClinVar RCV Id:
RCV000488878
dbSNP Id:
rs781702398
ExAC:
5:64084795 C / A
gnomAD v2:
5-64084795-C-A
gnomAD v4:
5-64788968-C-A
PubMed:
PMID:28285769
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.64788968C>A , CM000667.2:g.64788968C>A | GRCh38 |
| NC_000005.9:g.64084795C>A , CM000667.1:g.64084795C>A | GRCh37 |
| NC_000005.8:g.64120551C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485990.2:n.934C>A | ||
| ENST00000506168.2:c.122C>A | ENSP00000510592.1:p.Ser41Ter | |
| ENST00000508024.2:c.617C>A | ENSP00000426802.1:p.Ser206Ter | |
| ENST00000607786.2:c.317C>A | ENSP00000509647.1:p.Ser106Ter | |
| ENST00000685023.1:c.617C>A | ENSP00000508985.1:p.Ser206Ter | |
| ENST00000686041.1:n.777C>A | ||
| ENST00000687314.1:c.617C>A | ENSP00000510578.1:p.Ser206Ter | |
| ENST00000688107.1:c.617C>A | ENSP00000510268.1:p.Ser206Ter | |
| ENST00000688318.1:c.617C>A | ENSP00000508653.1:p.Ser206Ter | |
| ENST00000688896.1:c.617C>A | ENSP00000510604.1:p.Ser206Ter | |
| ENST00000689534.1:n.818C>A | ||
| ENST00000689574.1:c.617C>A | ENSP00000510176.1:p.Ser206Ter | |
| ENST00000691921.1:c.617C>A | ENSP00000509657.1:p.Ser206Ter | |
| ENST00000692005.1:c.518C>A | ENSP00000509199.1:p.Ser173Ter | |
| ENST00000692660.1:c.617C>A | ENSP00000510173.1:p.Ser206Ter | |
| ENST00000692763.1:c.617C>A | ENSP00000510726.1:p.Ser206Ter | |
| ENST00000693121.1:n.818C>A | ||
| ENST00000693303.1:c.617C>A | ENSP00000508557.1:p.Ser206Ter | |
| ENST00000693640.1:c.617C>A | ENSP00000509061.1:p.Ser206Ter | |
| ENST00000693660.1:c.518C>A | ENSP00000509052.1:p.Ser173Ter | |
| ENST00000381070.8:c.617C>A MANE Select | ENSP00000370460.2:p.Ser206Ter | |
| ENST00000381070.7:c.617C>A | ENSP00000370460.2:p.Ser206Ter | |
| ENST00000485990.1:n.619C>A | ||
| ENST00000508024.1:c.617C>A | ENSP00000426802.1:p.Ser206Ter | |
| NM_001297644.1:c.617C>A | NP_001284573.1:p.Ser206Ter | |
| NM_001297645.1:c.617C>A | NP_001284574.1:p.Ser206Ter | |
| NM_005869.3:c.617C>A | NP_005860.2:p.Ser206Ter | |
| XM_006714518.1:c.617C>A | XP_006714581.1:p.Ser206Ter | |
| XM_011543095.1:c.617C>A | XP_011541397.1:p.Ser206Ter | |
| XM_011543096.1:c.617C>A | XP_011541398.1:p.Ser206Ter | |
| XM_011543097.1:c.617C>A | XP_011541399.1:p.Ser206Ter | |
| NM_001318000.1:c.617C>A | NP_001304929.1:p.Ser206Ter | |
| NM_001364478.1:c.617C>A | NP_001351407.1:p.Ser206Ter | |
| XM_011543095.3:c.617C>A | XP_011541397.2:p.Ser206Ter | |
| XM_011543096.2:c.617C>A | XP_011541398.1:p.Ser206Ter | |
| NM_005869.4:c.617C>A MANE Select | NP_005860.2:p.Ser206Ter | |
| NM_001297645.2:c.617C>A | NP_001284574.1:p.Ser206Ter | |
| NM_001318000.2:c.617C>A | NP_001304929.1:p.Ser206Ter |