Linked Data
ClinVar Variation Id:
205378
dbSNP Id:
rs769591944
ExAC:
6:52303363 G / A
gnomAD v2:
6-52303363-G-A
gnomAD v3:
6-52438565-G-A
gnomAD v4:
6-52438565-G-A
COSMIC:
COSM5996569
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52438565G>A , CM000668.2:g.52438565G>A | GRCh38 |
| NC_000006.11:g.52303363G>A , CM000668.1:g.52303363G>A | GRCh37 |
| NC_000006.10:g.52411322G>A | NCBI36 |
| NG_016760.1:g.23370G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.547G>A MANE Select | ENSP00000360107.4:p.Val183Ile | |
| ENST00000480623.6:c.547G>A | ENSP00000434498.2:p.Val183Ile | |
| ENST00000635760.1:c.223G>A | ENSP00000489765.1:p.Val75Ile | |
| ENST00000635812.1:c.547G>A | ENSP00000490859.1:p.Val183Ile | |
| ENST00000635866.1:c.*416G>A | ENSP00000489866.1:n.*416G>A | |
| ENST00000635911.1:n.808G>A | ||
| ENST00000635984.1:c.223G>A | ENSP00000489921.1:p.Val75Ile | |
| ENST00000635996.1:c.547G>A | ENSP00000490256.1:p.Val183Ile | |
| ENST00000636107.1:c.547G>A | ENSP00000489680.1:p.Val183Ile | |
| ENST00000636253.1:n.201G>A | ||
| ENST00000636311.1:n.467+111G>A | ||
| ENST00000636343.1:c.213G>A | ||
| ENST00000636379.1:c.286-14123G>A | ENSP00000490622.1:n.286-14123G>A | |
| ENST00000636398.1:c.214G>A | ENSP00000489654.1:p.Val72Ile | |
| ENST00000636489.1:c.490G>A | ENSP00000489998.1:p.Val164Ile | |
| ENST00000636566.1:c.223G>A | ENSP00000490602.1:p.Val75Ile | |
| ENST00000636702.1:c.517G>A | ENSP00000489623.1:p.Val173Ile | |
| ENST00000636954.1:c.490G>A | ENSP00000489966.1:p.Val164Ile | |
| ENST00000637089.1:c.547G>A | ENSP00000489854.1:p.Val183Ile | |
| ENST00000637200.1:c.*563G>A | ENSP00000490567.1:n.*563G>A | |
| ENST00000637263.1:c.547G>A | ENSP00000489700.1:p.Val183Ile | |
| ENST00000637340.1:n.1215G>A | ||
| ENST00000637353.1:c.547G>A | ENSP00000490441.1:p.Val183Ile | |
| ENST00000637602.1:c.*248G>A | ENSP00000490074.1:n.*248G>A | |
| ENST00000637849.1:n.611G>A | ||
| ENST00000637892.1:n.751G>A | ||
| ENST00000638075.1:c.-72G>A | ENSP00000490711.1:n.-72G>A | |
| ENST00000371068.9:c.547G>A | ENSP00000360107.4:p.Val183Ile | |
| ENST00000480623.5:c.547G>A | ENSP00000434498.1:p.Val183Ile | |
| ENST00000538167.2:c.490G>A | ENSP00000444521.1:p.Val164Ile | |
| NM_001172420.1:c.490G>A | NP_001165891.1:p.Val164Ile | |
| NM_018100.3:c.547G>A | NP_060570.2:p.Val183Ile | |
| NR_033327.1:n.762G>A | ||
| NM_018100.4:c.547G>A MANE Select | NP_060570.2:p.Val183Ile | |
| NM_001172420.2:c.490G>A | NP_001165891.1:p.Val164Ile | |
| NR_033327.2:n.616G>A |