Linked Data
ClinVar Variation Id:
2593
dbSNP Id:
rs119458969
ExAC:
15:76578804 A / C
gnomAD v2:
15-76578804-A-C
gnomAD v3:
15-76286463-A-C
gnomAD v4:
15-76286463-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.76286463A>C , CM000677.2:g.76286463A>C | GRCh38 |
| NC_000015.9:g.76578804A>C , CM000677.1:g.76578804A>C | GRCh37 |
| NC_000015.8:g.74365859A>C | NCBI36 |
| NG_007077.2:g.30007T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559386.2:c.470T>G | ENSP00000452777.2:p.Val157Gly | |
| ENST00000560044.6:c.*465T>G | ENSP00000452942.1:n.*465T>G | |
| ENST00000560595.6:c.470T>G | ENSP00000453345.2:p.Val157Gly | |
| ENST00000565910.6:c.470T>G | ENSP00000458001.2:p.Val157Gly | |
| ENST00000685118.1:c.*465T>G | ENSP00000509473.1:n.*465T>G | |
| ENST00000685548.1:c.470T>G | ENSP00000510343.1:p.Val157Gly | |
| ENST00000685863.1:c.323T>G | ENSP00000509361.1:p.Val108Gly | |
| ENST00000687293.1:c.470T>G | ENSP00000509928.1:p.Val157Gly | |
| ENST00000687975.1:c.*346T>G | ENSP00000508690.1:n.*346T>G | |
| ENST00000688154.1:c.470T>G | ENSP00000510637.1:p.Val157Gly | |
| ENST00000688389.1:c.470T>G | ENSP00000510491.1:p.Val157Gly | |
| ENST00000688637.1:n.551T>G | ||
| ENST00000688908.1:c.305T>G | ENSP00000510242.1:p.Val102Gly | |
| ENST00000689120.1:n.554T>G | ||
| ENST00000689730.1:c.452T>G | ENSP00000510006.1:p.Val151Gly | |
| ENST00000689739.1:n.551T>G | ||
| ENST00000690610.1:c.470T>G | ENSP00000510473.1:p.Val157Gly | |
| ENST00000691021.1:c.*465T>G | ENSP00000510805.1:n.*465T>G | |
| ENST00000691071.1:n.249T>G | ||
| ENST00000691695.1:c.323T>G | ENSP00000509402.1:p.Val108Gly | |
| ENST00000692691.1:c.470T>G | ENSP00000508808.1:p.Val157Gly | |
| ENST00000693064.1:c.*445T>G | ENSP00000510720.1:n.*445T>G | |
| ENST00000557943.6:c.470T>G MANE Select | ENSP00000452762.1:p.Val157Gly | |
| ENST00000267950.12:c.*193T>G | ENSP00000267950.8:n.*193T>G | |
| ENST00000433983.6:c.323T>G | ENSP00000399273.2:p.Val108Gly | |
| ENST00000557943.5:c.470T>G | ENSP00000452762.1:p.Val157Gly | |
| ENST00000559075.5:n.494T>G | ||
| ENST00000559386.1:c.470T>G | ENSP00000452777.1:p.Val157Gly | |
| ENST00000559602.5:c.158T>G | ENSP00000452659.1:p.Val53Gly | |
| ENST00000559758.5:n.311T>G | ||
| ENST00000559973.5:c.180T>G | ||
| ENST00000560044.5:c.*465T>G | ENSP00000452942.1:n.*465T>G | |
| ENST00000560309.5:c.*383T>G | ENSP00000453753.1:n.*383T>G | |
| ENST00000560345.5:c.282T>G | ||
| ENST00000560595.5:c.470T>G | ENSP00000453345.1:p.Val157Gly | |
| ENST00000560726.5:c.-311T>G | ENSP00000453098.1:n.-311T>G | |
| ENST00000560816.5:n.29T>G | ||
| ENST00000560899.5:c.-311T>G | ENSP00000453422.1:n.-311T>G | |
| NM_000126.3:c.470T>G | NP_000117.1:p.Val157Gly | |
| NM_001127716.1:c.323T>G | NP_001121188.1:p.Val108Gly | |
| XR_931766.1:n.525T>G | ||
| XR_931766.3:n.551T>G | ||
| NM_000126.4:c.470T>G MANE Select | NP_000117.1:p.Val157Gly | |
| NM_001127716.2:c.323T>G | NP_001121188.1:p.Val108Gly |