Linked Data
ClinVar Variation Id:
523493
dbSNP Id:
rs766745943
ExAC:
11:759056 A / G
gnomAD v2:
11-759056-A-G
gnomAD v4:
11-759056-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.759056A>G , CM000673.2:g.759056A>G | GRCh38 |
| NC_000011.9:g.759056A>G , CM000673.1:g.759056A>G | GRCh37 |
| NC_000011.8:g.749056A>G | NCBI36 |
| NG_008160.1:g.16625A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319006.8:c.328A>G MANE Select | ENSP00000321259.3:p.Arg110Gly | |
| ENST00000319006.7:c.328A>G | ENSP00000321259.3:p.Arg110Gly | |
| ENST00000528070.5:c.*326A>G | ENSP00000435042.1:n.*326A>G | |
| ENST00000528097.5:c.328A>G | ENSP00000437098.1:p.Arg110Gly | |
| ENST00000530119.5:n.346A>G | ||
| ENST00000530440.1:c.269A>G | ENSP00000433501.1:p.Lys90Arg | |
| ENST00000533796.1:n.366A>G | ||
| NM_006755.1:c.328A>G | NP_006746.1:p.Arg110Gly | |
| NM_006755.2:c.328A>G MANE Select | NP_006746.1:p.Arg110Gly |