Linked Data
ClinVar Variation Id:
421739
dbSNP Id:
rs1064795334
gnomAD v2:
6-3155143-C-T
gnomAD v3:
6-3154909-C-T
gnomAD v4:
6-3154909-C-T
COSMIC:
COSM1077596
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154909C>T , CM000668.2:g.3154909C>T | GRCh38 |
| NC_000006.11:g.3155143C>T , CM000668.1:g.3155143C>T | GRCh37 |
| NC_000006.10:g.3100142C>T | NCBI36 |
| NG_042223.1:g.7641G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.292G>A MANE Select | ENSP00000369703.2:p.Gly98Arg | |
| ENST00000679400.1:n.348G>A | ||
| ENST00000679907.1:n.680G>A | ||
| ENST00000680036.1:n.1074G>A | ||
| ENST00000680967.1:n.1382G>A | ||
| ENST00000333628.3:c.292G>A | ENSP00000369703.2:p.Gly98Arg | |
| ENST00000489942.1:n.487G>A | ||
| NM_001069.2:c.292G>A | NP_001060.1:p.Gly98Arg | |
| NM_001310315.1:c.37G>A | NP_001297244.1:p.Gly13Arg | |
| NM_001069.3:c.292G>A MANE Select | NP_001060.1:p.Gly98Arg | |
| NM_001310315.2:c.37G>A | NP_001297244.1:p.Gly13Arg |