Linked Data
ClinVar Variation Id:
582
dbSNP Id:
rs5030849
ExAC:
12:103246653 C / T
gnomAD v2:
12-103246653-C-T
gnomAD v3:
12-102852875-C-T
gnomAD v4:
12-102852875-C-T
COSMIC:
COSM1358231
ERepo:
CA251528/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852875C>T , CM000674.2:g.102852875C>T | GRCh38 |
| NC_000012.11:g.103246653C>T , CM000674.1:g.103246653C>T | GRCh37 |
| NC_000012.10:g.101770783C>T | NCBI36 |
| NG_008690.1:g.69728G>A | |
| NG_008690.2:g.110536G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.782G>A MANE Select | ENSP00000448059.1:p.Arg261Gln | |
| ENST00000307000.7:c.767G>A | ENSP00000303500.2:p.Arg256Gln | |
| ENST00000549247.6:n.541G>A | ||
| ENST00000553106.5:c.782G>A | ENSP00000448059.1:p.Arg261Gln | |
| NM_000277.1:c.782G>A | NP_000268.1:p.Arg261Gln | |
| XM_011538422.1:c.782G>A | XP_011536724.1:p.Arg261Gln | |
| NM_000277.2:c.782G>A | NP_000268.1:p.Arg261Gln | |
| NM_001354304.1:c.782G>A | NP_001341233.1:p.Arg261Gln | |
| NM_000277.3:c.782G>A MANE Select | NP_000268.1:p.Arg261Gln | |
| NM_001354304.2:c.782G>A | NP_001341233.1:p.Arg261Gln |