Linked Data
ClinVar Variation Id:
259278
dbSNP Id:
rs1071645
ExAC:
8:17928811 C / T
gnomAD v2:
8-17928811-C-T
gnomAD v3:
8-18071302-C-T
gnomAD v4:
8-18071302-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18071302C>T , CM000670.2:g.18071302C>T | GRCh38 |
| NC_000008.10:g.17928811C>T , CM000670.1:g.17928811C>T | GRCh37 |
| NC_000008.9:g.17973091C>T | NCBI36 |
| NG_008985.1:g.18697G>A | |
| NG_008985.2:g.18697G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381733.9:c.262G>A | ENSP00000371152.4:p.Val88Met | |
| ENST00000518087.7:c.*50G>A | ENSP00000490753.1:n.*50G>A | |
| ENST00000519545.6:n.231G>A | ||
| ENST00000520781.6:c.214G>A | ENSP00000427751.1:p.Val72Met | |
| ENST00000523593.6:c.*57G>A | ENSP00000490700.1:n.*57G>A | |
| ENST00000635769.1:c.235G>A | ENSP00000490485.1:p.Val79Met | |
| ENST00000635944.1:c.*50G>A | ENSP00000490195.1:n.*50G>A | |
| ENST00000635998.1:c.214G>A | ENSP00000490506.1:p.Val72Met | |
| ENST00000636009.1:c.146G>A | ENSP00000489988.1:n.146G>A | |
| ENST00000636033.1:c.*50G>A | ENSP00000489617.1:n.*50G>A | |
| ENST00000636050.1:c.*57G>A | ENSP00000490562.1:n.*57G>A | |
| ENST00000636128.1:c.214G>A | ENSP00000489789.1:p.Val72Met | |
| ENST00000636160.1:c.*106G>A | ENSP00000489651.1:n.*106G>A | |
| ENST00000636171.1:c.214G>A | ENSP00000489761.1:p.Val72Met | |
| ENST00000636269.1:c.19G>A | ENSP00000490738.1:p.Val7Met | |
| ENST00000636299.1:c.174-1430G>A | ENSP00000490202.1:n.174-1430G>A | |
| ENST00000636435.1:n.298G>A | ||
| ENST00000636455.1:c.262G>A | ENSP00000490502.1:p.Val88Met | |
| ENST00000636494.1:c.126-1424G>A | ENSP00000490388.1:n.126-1424G>A | |
| ENST00000636537.1:c.262G>A | ENSP00000489914.1:p.Val88Met | |
| ENST00000636577.1:c.214G>A | ENSP00000490027.1:p.Val72Met | |
| ENST00000636691.1:c.19G>A | ENSP00000490725.1:p.Val7Met | |
| ENST00000636701.1:c.126-4004G>A | ENSP00000489800.1:n.126-4004G>A | |
| ENST00000636715.1:c.174-1424G>A | ENSP00000490876.1:n.174-1424G>A | |
| ENST00000636815.1:c.134-1424G>A | ||
| ENST00000636823.1:c.19G>A | ENSP00000490798.1:p.Val7Met | |
| ENST00000636828.1:n.390G>A | ||
| ENST00000636920.1:c.*50G>A | ENSP00000490437.1:n.*50G>A | |
| ENST00000636997.1:c.214G>A | ENSP00000490093.1:p.Val72Met | |
| ENST00000637013.1:c.*426G>A | ENSP00000490596.1:n.*426G>A | |
| ENST00000637095.1:c.185+29G>A | ENSP00000490415.1:n.185+29G>A | |
| ENST00000637202.1:c.126-1424G>A | ENSP00000490129.1:n.126-1424G>A | |
| ENST00000637244.1:c.*732G>A | ENSP00000490188.1:n.*732G>A | |
| ENST00000637429.1:c.*426G>A | ENSP00000490522.1:n.*426G>A | |
| ENST00000637484.1:c.*251G>A | ENSP00000490837.1:n.*251G>A | |
| ENST00000637528.1:c.214G>A | ENSP00000490801.1:p.Val72Met | |
| ENST00000637561.1:c.214G>A | ENSP00000490536.1:p.Val72Met | |
| ENST00000637603.1:c.214G>A | ENSP00000489979.1:p.Val72Met | |
| ENST00000637609.1:n.247G>A | ||
| ENST00000637636.1:c.214G>A | ENSP00000490112.1:p.Val72Met | |
| ENST00000637638.1:c.214G>A | ENSP00000490774.1:p.Val72Met | |
| ENST00000637718.1:c.19G>A | ENSP00000490133.1:p.Val7Met | |
| ENST00000637790.2:c.214G>A MANE Select | ENSP00000490272.1:p.Val72Met | |
| ENST00000637792.1:c.262G>A | ENSP00000490423.1:p.Val88Met | |
| ENST00000637805.1:c.*50G>A | ENSP00000489884.1:n.*50G>A | |
| ENST00000637872.1:c.19G>A | ENSP00000490432.1:p.Val7Met | |
| ENST00000637898.1:n.244G>A | ||
| ENST00000637922.1:c.19G>A | ENSP00000490071.1:p.Val7Met | |
| ENST00000637991.1:c.262G>A | ENSP00000489901.1:p.Val88Met | |
| ENST00000638069.1:n.270G>A | ||
| ENST00000262097.10:c.214G>A | ENSP00000262097.6:p.Val72Met | |
| ENST00000314146.10:c.283G>A | ENSP00000326970.10:p.Val95Met | |
| ENST00000381733.8:c.262G>A | ENSP00000371152.4:p.Val88Met | |
| ENST00000518087.6:n.262G>A | ||
| ENST00000519468.5:n.220G>A | ||
| ENST00000519545.5:n.228G>A | ||
| ENST00000520781.5:c.214G>A | ENSP00000427751.1:p.Val72Met | |
| ENST00000523593.5:n.157-4004G>A | ||
| NM_001127505.1:c.283G>A | NP_001120977.1:p.Val95Met | |
| NM_001127505.2:c.283G>A | NP_001120977.1:p.Val95Met | |
| NM_004315.4:c.262G>A | NP_004306.3:p.Val88Met | |
| NM_004315.5:c.262G>A | NP_004306.3:p.Val88Met | |
| NM_177924.3:c.214G>A | NP_808592.2:p.Val72Met | |
| NM_177924.4:c.214G>A | NP_808592.2:p.Val72Met | |
| XM_005273504.2:c.148G>A | XP_005273561.1:p.Val50Met | |
| NM_001363743.1:c.19G>A | NP_001350672.1:p.Val7Met | |
| XM_005273504.3:c.148G>A | XP_005273561.1:p.Val50Met | |
| NM_177924.5:c.214G>A MANE Select | NP_808592.2:p.Val72Met | |
| NM_001127505.3:c.283G>A | NP_001120977.1:p.Val95Met | |
| NM_001363743.2:c.19G>A | NP_001350672.1:p.Val7Met | |
| NM_004315.6:c.262G>A | NP_004306.3:p.Val88Met |