Linked Data
ClinVar Variation Id:
103233
ClinVar RCV Id:
RCV000089493
dbSNP Id:
rs199475809
gnomAD v3:
11-281674-A-G
gnomAD v4:
11-281674-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.281674A>G , CM000673.2:g.281674A>G | GRCh38 |
| NC_000011.9:g.281674A>G , CM000673.1:g.281674A>G | GRCh37 |
| NC_000011.8:g.271674A>G | NCBI36 |
| NG_050573.1:g.8310A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534750.6:c.1940A>G MANE Select | ENSP00000433617.1:p.Gln647Arg | |
| ENST00000312165.5:c.1940A>G | ENSP00000309767.4:p.Gln647Arg | |
| ENST00000534750.5:c.1940A>G | ENSP00000433617.1:p.Gln647Arg | |
| NM_001276700.1:c.1940A>G | NP_001263629.1:p.Gln647Arg | |
| NM_138329.2:c.1940A>G | NP_612202.2:p.Gln647Arg | |
| XM_011519931.1:c.1940A>G | XP_011518233.1:p.Gln647Arg | |
| XR_930848.1:n.2145A>G | ||
| XM_017017253.2:c.1454A>G | XP_016872742.1:p.Gln485Arg | |
| XR_002957127.1:n.2145A>G | ||
| NM_001276700.2:c.1940A>G MANE Select | NP_001263629.1:p.Gln647Arg |