Linked Data
ClinVar Variation Id:
482134
ClinVar RCV Id:
RCV000568209
dbSNP Id:
rs1272466952
gnomAD v2:
5-131924388-A-G
gnomAD v3:
5-132588696-A-G
gnomAD v4:
5-132588696-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132588696A>G , CM000667.2:g.132588696A>G | GRCh38 |
| NC_000005.9:g.131924388A>G , CM000667.1:g.131924388A>G | GRCh37 |
| NC_000005.8:g.131952287A>G | NCBI36 |
| NG_021151.1:g.36773A>G | |
| NG_021151.2:g.36720A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1061A>G MANE Select | ENSP00000368100.4:p.Gln354Arg | |
| ENST00000638452.2:c.764A>G | ENSP00000492349.2:p.Gln255Arg | |
| ENST00000638504.1:n.747A>G | ||
| ENST00000638568.2:c.764A>G | ENSP00000491158.2:p.Gln255Arg | |
| ENST00000639899.1:n.1580A>G | ||
| ENST00000640655.2:c.764A>G | ENSP00000491596.2:p.Gln255Arg | |
| ENST00000651160.1:c.1061A>G | ENSP00000498829.1:p.Gln354Arg | |
| ENST00000651541.1:c.764A>G | ENSP00000498795.1:p.Gln255Arg | |
| ENST00000651658.1:n.1488A>G | ||
| ENST00000651723.1:c.*1144A>G | ENSP00000498237.1:n.*1144A>G | |
| ENST00000652016.1:c.1061A>G | ENSP00000498267.1:p.Gln354Arg | |
| ENST00000652485.1:c.1061A>G | ENSP00000498973.1:p.Gln354Arg | |
| ENST00000378823.7:c.1061A>G | ENSP00000368100.4:p.Gln354Arg | |
| ENST00000423956.5:c.1061A>G | ENSP00000390971.1:p.Gln354Arg | |
| ENST00000453394.5:c.1061A>G | ENSP00000400049.1:p.Gln354Arg | |
| ENST00000487596.1:n.627A>G | ||
| ENST00000533482.5:c.*687A>G | ENSP00000431225.1:n.*687A>G | |
| NM_005732.3:c.1061A>G | NP_005723.2:p.Gln354Arg | |
| NM_005732.4:c.1061A>G MANE Select | NP_005723.2:p.Gln354Arg |