Linked Data
ClinVar Variation Id:
205391
dbSNP Id:
rs369926953
ExAC:
6:52318986 G / T
gnomAD v2:
6-52318986-G-T
gnomAD v3:
6-52454188-G-T
gnomAD v4:
6-52454188-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52454188G>T , CM000668.2:g.52454188G>T | GRCh38 |
| NC_000006.11:g.52318986G>T , CM000668.1:g.52318986G>T | GRCh37 |
| NC_000006.10:g.52426945G>T | NCBI36 |
| NG_016760.1:g.38993G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.817G>T MANE Select | ENSP00000360107.4:p.Val273Leu | |
| ENST00000480623.6:c.817G>T | ENSP00000434498.2:p.Val273Leu | |
| ENST00000635760.1:c.493G>T | ENSP00000489765.1:p.Val165Leu | |
| ENST00000635812.1:c.*118G>T | ENSP00000490859.1:n.*118G>T | |
| ENST00000635866.1:c.*686G>T | ENSP00000489866.1:n.*686G>T | |
| ENST00000635911.1:n.2335G>T | ||
| ENST00000635984.1:c.493G>T | ENSP00000489921.1:p.Val165Leu | |
| ENST00000635996.1:c.817G>T | ENSP00000490256.1:p.Val273Leu | |
| ENST00000636107.1:c.817G>T | ENSP00000489680.1:p.Val273Leu | |
| ENST00000636311.1:n.711G>T | ||
| ENST00000636343.1:c.483G>T | ||
| ENST00000636379.1:c.529G>T | ENSP00000490622.1:p.Val177Leu | |
| ENST00000636398.1:c.517G>T | ENSP00000489654.1:n.517G>T | |
| ENST00000636489.1:c.760G>T | ENSP00000489998.1:p.Val254Leu | |
| ENST00000636616.1:n.433G>T | ||
| ENST00000636702.1:c.787G>T | ENSP00000489623.1:p.Val263Leu | |
| ENST00000636954.1:c.760G>T | ENSP00000489966.1:p.Val254Leu | |
| ENST00000637089.1:c.817G>T | ENSP00000489854.1:p.Val273Leu | |
| ENST00000637263.1:c.817G>T | ENSP00000489700.1:p.Val273Leu | |
| ENST00000637340.1:n.2742G>T | ||
| ENST00000637353.1:c.817G>T | ENSP00000490441.1:p.Val273Leu | |
| ENST00000637602.1:c.*518G>T | ENSP00000490074.1:n.*518G>T | |
| ENST00000637849.1:n.881G>T | ||
| ENST00000637892.1:n.1021G>T | ||
| ENST00000371068.9:c.817G>T | ENSP00000360107.4:p.Val273Leu | |
| ENST00000480623.5:c.*1237G>T | ENSP00000434498.1:n.*1237G>T | |
| ENST00000538167.2:c.760G>T | ENSP00000444521.1:p.Val254Leu | |
| NM_001172420.1:c.760G>T | NP_001165891.1:p.Val254Leu | |
| NM_018100.3:c.817G>T | NP_060570.2:p.Val273Leu | |
| NR_033327.1:n.2289G>T | ||
| NM_018100.4:c.817G>T MANE Select | NP_060570.2:p.Val273Leu | |
| NM_001172420.2:c.760G>T | NP_001165891.1:p.Val254Leu | |
| NR_033327.2:n.2143G>T |