Linked Data
ClinVar Variation Id:
259283
dbSNP Id:
rs10103355
ExAC:
8:17918934 A / G
gnomAD v2:
8-17918934-A-G
gnomAD v3:
8-18061425-A-G
gnomAD v4:
8-18061425-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18061425A>G , CM000670.2:g.18061425A>G | GRCh38 |
| NC_000008.10:g.17918934A>G , CM000670.1:g.17918934A>G | GRCh37 |
| NC_000008.9:g.17963214A>G | NCBI36 |
| NG_008985.1:g.28574T>C | |
| NG_008985.2:g.28574T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381733.9:c.785T>C | ENSP00000371152.4:p.Val262Ala | |
| ENST00000517409.2:n.705T>C | ||
| ENST00000518746.2:n.2423T>C | ||
| ENST00000519545.6:n.754T>C | ||
| ENST00000520781.6:c.662T>C | ENSP00000427751.1:p.Val221Ala | |
| ENST00000521542.2:n.45T>C | ||
| ENST00000635756.1:c.150T>C | ||
| ENST00000635944.1:c.*573T>C | ENSP00000490195.1:n.*573T>C | |
| ENST00000635998.1:c.737T>C | ENSP00000490506.1:p.Val246Ala | |
| ENST00000636009.1:c.594T>C | ENSP00000489988.1:n.594T>C | |
| ENST00000636033.1:c.*573T>C | ENSP00000489617.1:n.*573T>C | |
| ENST00000636050.1:c.*580T>C | ENSP00000490562.1:n.*580T>C | |
| ENST00000636128.1:c.416T>C | ENSP00000489789.1:p.Val139Ala | |
| ENST00000636160.1:c.*629T>C | ENSP00000489651.1:n.*629T>C | |
| ENST00000636171.1:c.680T>C | ENSP00000489761.1:p.Val227Ala | |
| ENST00000636455.1:c.785T>C | ENSP00000490502.1:p.Val262Ala | |
| ENST00000636494.1:c.*517T>C | ENSP00000490388.1:n.*517T>C | |
| ENST00000636563.1:n.399T>C | ||
| ENST00000636577.1:c.677T>C | ENSP00000490027.1:p.Val226Ala | |
| ENST00000636691.1:c.542T>C | ENSP00000490725.1:p.Val181Ala | |
| ENST00000636701.1:c.*388T>C | ENSP00000489800.1:n.*388T>C | |
| ENST00000636815.1:c.654T>C | ||
| ENST00000636920.1:c.*573T>C | ENSP00000490437.1:n.*573T>C | |
| ENST00000636997.1:c.650T>C | ENSP00000490093.1:p.Val217Ala | |
| ENST00000637013.1:c.*1105T>C | ENSP00000490596.1:n.*1105T>C | |
| ENST00000637014.1:n.1144T>C | ||
| ENST00000637095.1:c.*517T>C | ENSP00000490415.1:n.*517T>C | |
| ENST00000637244.1:c.*1255T>C | ENSP00000490188.1:n.*1255T>C | |
| ENST00000637343.1:n.2174T>C | ||
| ENST00000637429.1:c.*949T>C | ENSP00000490522.1:n.*949T>C | |
| ENST00000637484.1:c.*699T>C | ENSP00000490837.1:n.*699T>C | |
| ENST00000637528.1:c.674T>C | ENSP00000490801.1:p.Val225Ala | |
| ENST00000637609.1:n.3458T>C | ||
| ENST00000637636.1:c.731T>C | ENSP00000490112.1:p.Val244Ala | |
| ENST00000637790.2:c.737T>C MANE Select | ENSP00000490272.1:p.Val246Ala | |
| ENST00000637857.1:n.1103T>C | ||
| ENST00000637922.1:c.542T>C | ENSP00000490071.1:p.Val181Ala | |
| ENST00000637991.1:c.710T>C | ENSP00000489901.1:p.Val237Ala | |
| ENST00000638028.1:n.954T>C | ||
| ENST00000638069.1:n.1558T>C | ||
| ENST00000262097.10:c.737T>C | ENSP00000262097.6:p.Val246Ala | |
| ENST00000314146.10:c.719T>C | ENSP00000326970.10:p.Val240Ala | |
| ENST00000381733.8:c.785T>C | ENSP00000371152.4:p.Val262Ala | |
| ENST00000518746.1:n.554T>C | ||
| ENST00000519468.5:n.566T>C | ||
| ENST00000520781.5:c.662T>C | ENSP00000427751.1:p.Val221Ala | |
| ENST00000521542.1:n.450T>C | ||
| NM_001127505.1:c.719T>C | NP_001120977.1:p.Val240Ala | |
| NM_001127505.2:c.719T>C | NP_001120977.1:p.Val240Ala | |
| NM_004315.4:c.785T>C | NP_004306.3:p.Val262Ala | |
| NM_004315.5:c.785T>C | NP_004306.3:p.Val262Ala | |
| NM_177924.3:c.737T>C | NP_808592.2:p.Val246Ala | |
| NM_177924.4:c.737T>C | NP_808592.2:p.Val246Ala | |
| XM_005273504.2:c.671T>C | XP_005273561.1:p.Val224Ala | |
| NM_001363743.1:c.542T>C | NP_001350672.1:p.Val181Ala | |
| XM_005273504.3:c.671T>C | XP_005273561.1:p.Val224Ala | |
| NM_177924.5:c.737T>C MANE Select | NP_808592.2:p.Val246Ala | |
| NM_001127505.3:c.719T>C | NP_001120977.1:p.Val240Ala | |
| NM_001363743.2:c.542T>C | NP_001350672.1:p.Val181Ala | |
| NM_004315.6:c.785T>C | NP_004306.3:p.Val262Ala |