Linked Data
ClinVar Variation Id:
35544
dbSNP Id:
rs145873635
ExAC:
8:17933050 G / A
gnomAD v2:
8-17933050-G-A
gnomAD v3:
8-18075541-G-A
gnomAD v4:
8-18075541-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18075541G>A , CM000670.2:g.18075541G>A | GRCh38 |
| NC_000008.10:g.17933050G>A , CM000670.1:g.17933050G>A | GRCh37 |
| NC_000008.9:g.17977330G>A | NCBI36 |
| NG_008985.1:g.14458C>T | |
| NG_008985.2:g.14458C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381733.9:c.173C>T | ENSP00000371152.4:p.Thr58Met | |
| ENST00000518087.7:c.189C>T | ENSP00000490753.1:p.Asn63= | |
| ENST00000519545.6:n.142C>T | ||
| ENST00000520781.6:c.125C>T | ENSP00000427751.1:p.Thr42Met | |
| ENST00000523593.6:c.118C>T | ENSP00000490700.1:p.Arg40Cys | |
| ENST00000635769.1:c.125C>T | ENSP00000490485.1:p.Thr42Ile | |
| ENST00000635944.1:c.189C>T | ENSP00000490195.1:p.Asn63= | |
| ENST00000635998.1:c.125C>T | ENSP00000490506.1:p.Thr42Met | |
| ENST00000636009.1:c.57C>T | ENSP00000489988.1:p.Asn19= | |
| ENST00000636033.1:c.207C>T | ENSP00000489617.1:p.Asn69= | |
| ENST00000636050.1:c.262C>T | ENSP00000490562.1:p.Arg88Cys | |
| ENST00000636128.1:c.125C>T | ENSP00000489789.1:p.Thr42Met | |
| ENST00000636160.1:c.125C>T | ENSP00000489651.1:p.Thr42Ile | |
| ENST00000636171.1:c.125C>T | ENSP00000489761.1:p.Thr42Met | |
| ENST00000636269.1:c.-71C>T | ENSP00000490738.1:n.-71C>T | |
| ENST00000636299.1:c.173C>T | ENSP00000490202.1:p.Thr58Met | |
| ENST00000636435.1:n.209C>T | ||
| ENST00000636455.1:c.173C>T | ENSP00000490502.1:p.Thr58Met | |
| ENST00000636494.1:c.125C>T | ENSP00000490388.1:p.Thr42Ile | |
| ENST00000636537.1:c.173C>T | ENSP00000489914.1:p.Thr58Met | |
| ENST00000636577.1:c.125C>T | ENSP00000490027.1:p.Thr42Met | |
| ENST00000636691.1:c.-71C>T | ENSP00000490725.1:n.-71C>T | |
| ENST00000636701.1:c.125C>T | ENSP00000489800.1:p.Thr42Ile | |
| ENST00000636715.1:c.173C>T | ENSP00000490876.1:p.Thr58Ile | |
| ENST00000636815.1:c.133C>T | ||
| ENST00000636823.1:c.-71C>T | ENSP00000490798.1:n.-71C>T | |
| ENST00000636828.1:n.301C>T | ||
| ENST00000636920.1:c.165C>T | ENSP00000490437.1:p.Asn55= | |
| ENST00000636997.1:c.125C>T | ENSP00000490093.1:p.Thr42Met | |
| ENST00000637013.1:c.*337C>T | ENSP00000490596.1:n.*337C>T | |
| ENST00000637095.1:c.125C>T | ENSP00000490415.1:p.Thr42Met | |
| ENST00000637202.1:c.125C>T | ENSP00000490129.1:p.Thr42Ile | |
| ENST00000637244.1:c.*643C>T | ENSP00000490188.1:n.*643C>T | |
| ENST00000637429.1:c.*337C>T | ENSP00000490522.1:n.*337C>T | |
| ENST00000637484.1:c.*162C>T | ENSP00000490837.1:n.*162C>T | |
| ENST00000637528.1:c.125C>T | ENSP00000490801.1:p.Thr42Met | |
| ENST00000637536.1:c.479C>T | ENSP00000490464.1:p.Thr160Met | |
| ENST00000637561.1:c.125C>T | ENSP00000490536.1:p.Thr42Met | |
| ENST00000637603.1:c.125C>T | ENSP00000489979.1:p.Thr42Met | |
| ENST00000637609.1:n.158C>T | ||
| ENST00000637636.1:c.125C>T | ENSP00000490112.1:p.Thr42Met | |
| ENST00000637638.1:c.125C>T | ENSP00000490774.1:p.Thr42Met | |
| ENST00000637718.1:c.-71C>T | ENSP00000490133.1:n.-71C>T | |
| ENST00000637790.2:c.125C>T MANE Select | ENSP00000490272.1:p.Thr42Met | |
| ENST00000637792.1:c.173C>T | ENSP00000490423.1:p.Thr58Met | |
| ENST00000637805.1:c.177C>T | ENSP00000489884.1:p.Asn59= | |
| ENST00000637872.1:c.-71C>T | ENSP00000490432.1:n.-71C>T | |
| ENST00000637898.1:n.155C>T | ||
| ENST00000637922.1:c.-71C>T | ENSP00000490071.1:n.-71C>T | |
| ENST00000637946.1:c.*574C>T | ENSP00000490025.1:n.*574C>T | |
| ENST00000637991.1:c.173C>T | ENSP00000489901.1:p.Thr58Met | |
| ENST00000638069.1:n.181C>T | ||
| ENST00000262097.10:c.125C>T | ENSP00000262097.6:p.Thr42Met | |
| ENST00000314146.10:c.173C>T | ENSP00000326970.10:p.Thr58Ile | |
| ENST00000381733.8:c.173C>T | ENSP00000371152.4:p.Thr58Met | |
| ENST00000518087.6:n.173C>T | ||
| ENST00000519468.5:n.131C>T | ||
| ENST00000519545.5:n.139C>T | ||
| ENST00000520051.1:n.711C>T | ||
| ENST00000520781.5:c.125C>T | ENSP00000427751.1:p.Thr42Met | |
| ENST00000523593.5:n.156C>T | ||
| NM_001127505.1:c.173C>T | NP_001120977.1:p.Thr58Ile | |
| NM_001127505.2:c.173C>T | NP_001120977.1:p.Thr58Ile | |
| NM_004315.4:c.173C>T | NP_004306.3:p.Thr58Met | |
| NM_004315.5:c.173C>T | NP_004306.3:p.Thr58Met | |
| NM_177924.3:c.125C>T | NP_808592.2:p.Thr42Met | |
| NM_177924.4:c.125C>T | NP_808592.2:p.Thr42Met | |
| XM_005273504.2:c.59C>T | XP_005273561.1:p.Thr20Met | |
| NM_001363743.1:c.-71C>T | NP_001350672.1:n.-71C>T | |
| XM_005273504.3:c.59C>T | XP_005273561.1:p.Thr20Met | |
| NM_177924.5:c.125C>T MANE Select | NP_808592.2:p.Thr42Met | |
| NM_001127505.3:c.173C>T | NP_001120977.1:p.Thr58Ile | |
| NM_001363743.2:c.-71C>T | NP_001350672.1:n.-71C>T | |
| NM_004315.6:c.173C>T | NP_004306.3:p.Thr58Met |