Linked Data
ClinVar Variation Id:
133314
ClinVar RCV Id:
RCV000119826
dbSNP Id:
rs5030850
gnomAD v2:
12-103246654-G-C
gnomAD v4:
12-102852876-G-C
ERepo:
CA269921/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852876G>C , CM000674.2:g.102852876G>C | GRCh38 |
| NC_000012.11:g.103246654G>C , CM000674.1:g.103246654G>C | GRCh37 |
| NC_000012.10:g.101770784G>C | NCBI36 |
| NG_008690.1:g.69727C>G | |
| NG_008690.2:g.110535C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.781C>G MANE Select | ENSP00000448059.1:p.Arg261Gly | |
| ENST00000307000.7:c.766C>G | ENSP00000303500.2:p.Arg256Gly | |
| ENST00000549247.6:n.540C>G | ||
| ENST00000553106.5:c.781C>G | ENSP00000448059.1:p.Arg261Gly | |
| NM_000277.1:c.781C>G | NP_000268.1:p.Arg261Gly | |
| XM_011538422.1:c.781C>G | XP_011536724.1:p.Arg261Gly | |
| NM_000277.2:c.781C>G | NP_000268.1:p.Arg261Gly | |
| NM_001354304.1:c.781C>G | NP_001341233.1:p.Arg261Gly | |
| NM_000277.3:c.781C>G MANE Select | NP_000268.1:p.Arg261Gly | |
| NM_001354304.2:c.781C>G | NP_001341233.1:p.Arg261Gly |