Linked Data
ClinVar Variation Id:
2298440
ClinVar RCV Id:
RCV002873416
dbSNP Id:
rs769805782
gnomAD v4:
11-64753538-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753538C>G , CM000673.2:g.64753538C>G | GRCh38 |
| NC_000011.9:g.64521010C>G , CM000673.1:g.64521010C>G | GRCh37 |
| NC_000011.8:g.64277586C>G | NCBI36 |
| NG_013018.1:g.12178G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1384G>C MANE Select | ENSP00000164139.3:p.Glu462Gln | |
| ENST00000164139.3:c.1384G>C | ENSP00000164139.3:p.Glu462Gln | |
| ENST00000377432.7:c.1120G>C | ENSP00000366650.3:p.Glu374Gln | |
| NM_001164716.1:c.1120G>C | NP_001158188.1:p.Glu374Gln | |
| NM_005609.2:c.1384G>C | NP_005600.1:p.Glu462Gln | |
| NM_005609.3:c.1384G>C | NP_005600.1:p.Glu462Gln | |
| NM_005609.4:c.1384G>C MANE Select | NP_005600.1:p.Glu462Gln |