Linked Data
ClinVar Variation Id:
204912
dbSNP Id:
rs142013283
ExAC:
X:40456872 G / A
gnomAD v2:
X-40456872-G-A
gnomAD v3:
X-40597620-G-A
gnomAD v4:
X-40597620-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.40597620G>A , CM000685.2:g.40597620G>A | GRCh38 |
| NC_000023.10:g.40456872G>A , CM000685.1:g.40456872G>A | GRCh37 |
| NC_000023.9:g.40341816G>A | NCBI36 |
| NG_008874.1:g.21657G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378438.9:c.490G>A | ENSP00000367697.5:p.Val164Ile | |
| ENST00000423649.2:c.301-1061G>A | ENSP00000410105.2:n.301-1061G>A | |
| ENST00000436783.6:c.343G>A | ENSP00000403969.2:p.Val115Ile | |
| ENST00000447485.6:c.490G>A | ENSP00000411317.2:p.Val164Ile | |
| ENST00000479120.2:n.521G>A | ||
| ENST00000486558.6:c.166G>A | ENSP00000490706.1:p.Val56Ile | |
| ENST00000635734.1:c.*78G>A | ENSP00000489653.1:n.*78G>A | |
| ENST00000635774.1:c.490G>A | ENSP00000490733.1:p.Val164Ile | |
| ENST00000635829.1:n.108-1061G>A | ||
| ENST00000636196.1:c.490G>A | ENSP00000490675.1:p.Val164Ile | |
| ENST00000636251.1:c.262G>A | ENSP00000489920.1:p.Val88Ile | |
| ENST00000636287.1:c.394G>A | ENSP00000490452.1:p.Val132Ile | |
| ENST00000636409.1:c.394G>A | ENSP00000489819.1:p.Val132Ile | |
| ENST00000636574.1:c.*56G>A | ENSP00000490345.1:n.*56G>A | |
| ENST00000636580.2:c.490G>A MANE Select | ENSP00000490083.1:p.Val164Ile | |
| ENST00000636639.1:c.490G>A | ENSP00000490382.1:p.Val164Ile | |
| ENST00000636787.1:c.490G>A | ENSP00000490954.1:p.Val164Ile | |
| ENST00000636970.1:c.166G>A | ENSP00000490462.1:p.Val56Ile | |
| ENST00000637019.1:n.3G>A | ||
| ENST00000637140.1:n.102G>A | ||
| ENST00000637327.1:c.262G>A | ENSP00000490558.1:p.Val88Ile | |
| ENST00000637482.1:c.73-1061G>A | ENSP00000490532.1:n.73-1061G>A | |
| ENST00000637526.1:c.343G>A | ENSP00000489845.1:p.Val115Ile | |
| ENST00000637614.1:c.97-1972G>A | ENSP00000490884.1:n.97-1972G>A | |
| ENST00000637793.1:n.54G>A | ||
| ENST00000637930.1:n.95-132G>A | ||
| ENST00000637955.1:c.441G>A | ||
| ENST00000638046.1:n.50G>A | ||
| ENST00000638153.1:c.490G>A | ENSP00000490239.1:p.Val164Ile | |
| ENST00000378438.8:c.490G>A | ENSP00000367697.4:p.Val164Ile | |
| ENST00000423649.1:c.356-1061G>A | ||
| ENST00000436783.5:c.490G>A | ENSP00000403969.1:p.Val164Ile | |
| ENST00000447485.5:c.414G>A | ||
| ENST00000479120.1:n.521G>A | ||
| ENST00000486558.5:n.347G>A | ||
| NM_005765.2:c.490G>A | NP_005756.2:p.Val164Ile | |
| NM_005765.3:c.490G>A MANE Select | NP_005756.2:p.Val164Ile |