Linked Data
ClinVar Variation Id:
1759207
ClinVar RCV Id:
RCV002391613
dbSNP Id:
rs769313907
ExAC:
16:2376256 G / A
gnomAD v2:
16-2376256-G-A
gnomAD v3:
16-2326255-G-A
gnomAD v4:
16-2326255-G-A
COSMIC:
COSM1740228
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2326255G>A , CM000678.2:g.2326255G>A | GRCh38 |
| NC_000016.9:g.2376256G>A , CM000678.1:g.2376256G>A | GRCh37 |
| NC_000016.8:g.2316257G>A | NCBI36 |
| NG_011790.1:g.19492C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.74C>T MANE Select | ENSP00000301732.5:p.Thr25Met | |
| ENST00000301732.9:c.74C>T | ENSP00000301732.5:p.Thr25Met | |
| ENST00000382381.7:c.74C>T | ENSP00000371818.3:p.Thr25Met | |
| ENST00000563623.5:n.637C>T | ||
| ENST00000567910.1:c.74C>T | ENSP00000454397.1:p.Thr25Met | |
| NM_001089.2:c.74C>T | NP_001080.2:p.Thr25Met | |
| NM_001089.3:c.74C>T MANE Select | NP_001080.2:p.Thr25Met |