Linked Data
ClinVar Variation Id:
1896980
ClinVar RCV Id:
RCV002576152
dbSNP Id:
rs1157028451
gnomAD v2:
6-3155006-C-T
gnomAD v4:
6-3154772-C-T
COSMIC:
COSM1077594
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154772C>T , CM000668.2:g.3154772C>T | GRCh38 |
| NC_000006.11:g.3155006C>T , CM000668.1:g.3155006C>T | GRCh37 |
| NC_000006.10:g.3100005C>T | NCBI36 |
| NG_042223.1:g.7778G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333628.4:c.429G>A MANE Select | ENSP00000369703.2:p.Thr143= | |
| ENST00000679400.1:n.485G>A | ||
| ENST00000679907.1:n.817G>A | ||
| ENST00000680036.1:n.1211G>A | ||
| ENST00000680967.1:n.1519G>A | ||
| ENST00000333628.3:c.429G>A | ENSP00000369703.2:p.Thr143= | |
| ENST00000489942.1:n.624G>A | ||
| NM_001069.2:c.429G>A | NP_001060.1:p.Thr143= | |
| NM_001310315.1:c.174G>A | NP_001297244.1:p.Thr58= | |
| NM_001069.3:c.429G>A MANE Select | NP_001060.1:p.Thr143= | |
| NM_001310315.2:c.174G>A | NP_001297244.1:p.Thr58= |