Linked Data
ClinVar Variation Id:
129025
dbSNP Id:
rs7158
ExAC:
9:37782111 C / T
gnomAD v2:
9-37782111-C-T
gnomAD v3:
9-37782114-C-T
gnomAD v4:
9-37782114-C-T
COSMIC:
COSM3763941
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37782114C>T , CM000671.2:g.37782114C>T | GRCh38 |
| NC_000009.11:g.37782111C>T , CM000671.1:g.37782111C>T | GRCh37 |
| NC_000009.10:g.37772111C>T | NCBI36 |
| NG_032780.1:g.7979G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327304.10:c.498G>A MANE Select | ENSP00000323046.4:p.Gln166= | |
| ENST00000465860.6:n.199G>A | ||
| ENST00000678095.1:c.81-1234G>A | ENSP00000503205.1:n.81-1234G>A | |
| ENST00000678588.1:n.1175G>A | ||
| ENST00000679059.1:c.475-1234G>A | ENSP00000503947.1:n.475-1234G>A | |
| ENST00000327304.9:c.498G>A | ENSP00000323046.4:p.Gln166= | |
| ENST00000396521.3:c.475-1234G>A | ENSP00000379775.3:n.475-1234G>A | |
| ENST00000465229.5:c.475-1234G>A | ENSP00000418422.1:n.475-1234G>A | |
| ENST00000465860.5:n.199G>A | ||
| ENST00000482614.5:n.259G>A | ||
| ENST00000489414.5:n.217G>A | ||
| ENST00000490516.5:n.481-1234G>A | ||
| ENST00000540557.1:c.*910+1800G>A | ENSP00000457548.1:n.*910+1800G>A | |
| NM_001002269.2:c.475-1234G>A | NP_001002269.1:n.475-1234G>A | |
| NM_016042.3:c.498G>A | NP_057126.2:p.Gln166= | |
| NM_016042.4:c.498G>A MANE Select | NP_057126.2:p.Gln166= |