Linked Data
ClinVar Variation Id:
1310960
ClinVar RCV Id:
RCV001758469
dbSNP Id:
rs2113785278
gnomAD v4:
6-3154374-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154374C>T , CM000668.2:g.3154374C>T | GRCh38 |
| NC_000006.11:g.3154608C>T , CM000668.1:g.3154608C>T | GRCh37 |
| NC_000006.10:g.3099607C>T | NCBI36 |
| NG_042223.1:g.8176G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.827G>A MANE Select | ENSP00000369703.2:p.Arg276Gln | |
| ENST00000679400.1:n.883G>A | ||
| ENST00000679907.1:n.1215G>A | ||
| ENST00000680036.1:n.1609G>A | ||
| ENST00000680967.1:n.1917G>A | ||
| ENST00000333628.3:c.827G>A | ENSP00000369703.2:p.Arg276Gln | |
| NM_001069.2:c.827G>A | NP_001060.1:p.Arg276Gln | |
| NM_001310315.1:c.572G>A | NP_001297244.1:p.Arg191Gln | |
| NM_001069.3:c.827G>A MANE Select | NP_001060.1:p.Arg276Gln | |
| NM_001310315.2:c.572G>A | NP_001297244.1:p.Arg191Gln |