Linked Data
ClinVar Variation Id:
1440267
ClinVar RCV Id:
RCV001967628
dbSNP Id:
rs768007461
ExAC:
2:88874851 T / C
gnomAD v2:
2-88874851-T-C
gnomAD v3:
2-88575333-T-C
gnomAD v4:
2-88575333-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88575333T>C , CM000664.2:g.88575333T>C | GRCh38 |
| NC_000002.11:g.88874851T>C , CM000664.1:g.88874851T>C | GRCh37 |
| NC_000002.10:g.88655966T>C | NCBI36 |
| NG_016424.1:g.57244A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478003.2:n.1978A>G | ||
| ENST00000682276.1:n.1595A>G | ||
| ENST00000682892.1:c.1697A>G | ENSP00000507214.1:p.Gln566Arg | |
| ENST00000682952.1:n.1789A>G | ||
| ENST00000684455.1:c.1363A>G | ||
| ENST00000684642.1:c.1547A>G | ENSP00000507355.1:p.Gln516Arg | |
| ENST00000684740.1:n.2328A>G | ||
| ENST00000303236.9:c.2150A>G MANE Select | ENSP00000307235.3:p.Gln717Arg | |
| ENST00000652099.1:c.2344A>G | ||
| ENST00000652736.1:n.2026A>G | ||
| ENST00000303236.7:c.2150A>G | ENSP00000307235.3:p.Gln717Arg | |
| ENST00000415570.1:c.1787A>G | ENSP00000412076.1:p.Gln596Arg | |
| ENST00000419748.5:c.1697A>G | ENSP00000408325.1:p.Gln566Arg | |
| ENST00000470706.1:n.48+28A>G | ||
| NM_001313915.1:c.1697A>G | NP_001300844.1:p.Gln566Arg | |
| NM_004836.5:c.2150A>G | NP_004827.4:p.Gln717Arg | |
| NM_004836.6:c.2150A>G | NP_004827.4:p.Gln717Arg | |
| NR_110236.1:n.1470T>C | ||
| XM_005264649.3:c.1466A>G | XP_005264706.1:p.Gln489Arg | |
| XR_939749.1:n.2429A>G | ||
| XM_017005376.2:c.1466A>G | XP_016860865.1:p.Gln489Arg | |
| NM_004836.7:c.2150A>G MANE Select | NP_004827.4:p.Gln717Arg | |
| NM_001313915.2:c.1697A>G | NP_001300844.1:p.Gln566Arg |