Linked Data
ClinVar Variation Id:
1522892
ClinVar RCV Id:
RCV002036348
dbSNP Id:
rs900202261
gnomAD v2:
14-99640832-C-G
gnomAD v3:
14-99174495-C-G
gnomAD v4:
14-99174495-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.99174495C>G , CM000676.2:g.99174495C>G | GRCh38 |
| NC_000014.8:g.99640832C>G , CM000676.1:g.99640832C>G | GRCh37 |
| NC_000014.7:g.98710585C>G | NCBI36 |
| NG_027894.1:g.101991G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357195.8:c.2341G>C MANE Select | ENSP00000349723.3:p.Gly781Arg | |
| ENST00000345514.2:c.2128G>C | ENSP00000280435.6:p.Gly710Arg | |
| ENST00000357195.7:c.2341G>C | ENSP00000349723.3:p.Gly781Arg | |
| ENST00000443726.2:c.1759G>C | ENSP00000387419.2:p.Gly587Arg | |
| NM_001282237.1:c.2338G>C | NP_001269166.1:p.Gly780Arg | |
| NM_001282238.1:c.2125G>C | NP_001269167.1:p.Gly709Arg | |
| NM_022898.2:c.2128G>C | NP_075049.1:p.Gly710Arg | |
| NM_138576.3:c.2341G>C | NP_612808.1:p.Gly781Arg | |
| XM_011537100.1:c.2203G>C | XP_011535402.1:p.Gly735Arg | |
| NM_138576.4:c.2341G>C MANE Select | NP_612808.1:p.Gly781Arg | |
| NM_001282237.2:c.2338G>C | NP_001269166.1:p.Gly780Arg | |
| NM_001282238.2:c.2125G>C | NP_001269167.1:p.Gly709Arg | |
| NM_022898.3:c.2128G>C | NP_075049.1:p.Gly710Arg |