Linked Data
ClinVar Variation Id:
1946352
ClinVar RCV Id:
RCV002681052
dbSNP Id:
rs1967570872
gnomAD v4:
19-6697734-C-T
COSMIC:
COSM159595
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6697734C>T , CM000681.2:g.6697734C>T | GRCh38 |
| NC_000019.9:g.6697745C>T , CM000681.1:g.6697745C>T | GRCh37 |
| NC_000019.8:g.6648745C>T | NCBI36 |
| NG_009557.1:g.27918G>A , LRG_27:g.27918G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.849G>A | ||
| ENST00000695652.1:c.2378G>A | ENSP00000512083.1:p.Arg793Gln | |
| ENST00000695653.1:c.410G>A | ENSP00000512084.1:p.Arg137Gln | |
| ENST00000695654.1:c.1625G>A | ENSP00000512085.1:p.Arg542Gln | |
| ENST00000695655.1:c.1442G>A | ENSP00000512086.1:n.1442G>A | |
| ENST00000695692.1:n.1865G>A | ||
| ENST00000245907.11:c.2501G>A MANE Select | ENSP00000245907.4:p.Arg834Gln | |
| ENST00000245907.10:c.2501G>A | ENSP00000245907.4:p.Arg834Gln | |
| ENST00000602053.1:n.549G>A | ||
| NM_000064.3:c.2501G>A | NP_000055.2:p.Arg834Gln | |
| NM_000064.4:c.2501G>A MANE Select | NP_000055.2:p.Arg834Gln |