Linked Data
ClinVar Variation Id:
477867
ClinVar RCV Id:
RCV000531862
dbSNP Id:
rs34826485
ExAC:
5:161116751 A / G
gnomAD v2:
5-161116751-A-G
gnomAD v3:
5-161689745-A-G
gnomAD v4:
5-161689745-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161689745A>G , CM000667.2:g.161689745A>G | GRCh38 |
| NC_000005.9:g.161116751A>G , CM000667.1:g.161116751A>G | GRCh37 |
| NC_000005.8:g.161049329A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274545.10:c.639A>G MANE Select | ENSP00000274545.5:p.Gln213= | |
| ENST00000274545.9:c.639A>G | ENSP00000274545.5:p.Gln213= | |
| ENST00000517823.5:c.480A>G | ENSP00000430212.1:p.Gln160= | |
| ENST00000520000.5:c.458A>G | ||
| ENST00000521520.1:n.211A>G | ||
| ENST00000523217.5:c.609A>G | ENSP00000430527.1:p.Gln203= | |
| ENST00000523691.1:c.399A>G | ENSP00000427989.1:p.Gln133= | |
| NM_000811.2:c.639A>G | NP_000802.2:p.Gln213= | |
| NM_000811.3:c.639A>G MANE Select | NP_000802.2:p.Gln213= |