Linked Data
ClinVar Variation Id:
134418
dbSNP Id:
rs147528200
ExAC:
1:241663824 C / T
gnomAD v2:
1-241663824-C-T
gnomAD v3:
1-241500524-C-T
gnomAD v4:
1-241500524-C-T
COSMIC:
COSM906402
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241500524C>T , CM000663.2:g.241500524C>T | GRCh38 |
| NC_000001.10:g.241663824C>T , CM000663.1:g.241663824C>T | GRCh37 |
| NC_000001.9:g.239730447C>T | NCBI36 |
| NG_012338.1:g.24231G>A , LRG_504:g.24231G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1806G>A | ||
| ENST00000682162.1:c.1332G>A | ENSP00000508203.1:n.1332G>A | |
| ENST00000682567.1:n.4703G>A | ||
| ENST00000683521.1:c.1303G>A | ENSP00000506864.1:p.Val435Met | |
| ENST00000684161.1:n.2518G>A | ||
| ENST00000684483.1:c.*699G>A | ENSP00000507894.1:n.*699G>A | |
| ENST00000366560.4:c.1303G>A MANE Select | ENSP00000355518.4:p.Val435Met | |
| ENST00000366560.3:c.1303G>A | ENSP00000355518.3:p.Val435Met | |
| NM_000143.3:c.1303G>A , LRG_504t1:c.1303G>A | NP_000134.2:p.Val435Met | |
| XM_011544132.1:c.1075G>A | XP_011542434.1:p.Val359Met | |
| XM_011544132.2:c.1075G>A | XP_011542434.1:p.Val359Met | |
| NM_000143.4:c.1303G>A MANE Select | NP_000134.2:p.Val435Met |