Linked Data
ClinVar Variation Id:
194788
dbSNP Id:
rs780742937
ExAC:
9:140693354 C / T
gnomAD v2:
9-140693354-C-T
gnomAD v3:
9-137798902-C-T
gnomAD v4:
9-137798902-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137798902C>T , CM000671.2:g.137798902C>T | GRCh38 |
| NC_000009.11:g.140693354C>T , CM000671.1:g.140693354C>T | GRCh37 |
| NC_000009.10:g.139813175C>T | NCBI36 |
| NG_011776.1:g.184911C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2595C>T MANE Select | ENSP00000417980.1:p.Asp865= | |
| ENST00000635783.1:n.53C>T | ||
| ENST00000636027.1:c.2481C>T | ENSP00000489961.1:p.Asp827= | |
| ENST00000637161.1:c.2502C>T | ENSP00000490328.1:p.Asp834= | |
| ENST00000637261.1:c.2635C>T | ENSP00000490815.1:n.2635C>T | |
| ENST00000637891.1:c.489C>T | ENSP00000490907.1:p.Asp163= | |
| ENST00000637949.1:c.273C>T | ENSP00000489786.1:p.Asp91= | |
| ENST00000460843.5:c.2595C>T | ENSP00000417980.1:p.Asp865= | |
| ENST00000462942.3:c.1452C>T | ENSP00000436107.1:p.Asp484= | |
| ENST00000482340.5:c.165C>T | ENSP00000486748.1:p.Asp55= | |
| ENST00000486164.5:c.173C>T | ||
| ENST00000493484.5:c.165C>T | ENSP00000486503.1:p.Asp55= | |
| NM_024757.4:c.2595C>T | NP_079033.4:p.Asp865= | |
| XM_005266105.3:c.2586C>T | XP_005266162.1:p.Asp862= | |
| XM_005266110.1:c.2502C>T | XP_005266167.1:p.Asp834= | |
| XM_006717288.2:c.2577C>T | XP_006717351.1:p.Asp859= | |
| XM_011519021.1:c.2604C>T | XP_011517323.1:p.Asp868= | |
| XM_011519022.1:c.2601C>T | XP_011517324.1:p.Asp867= | |
| XM_011519023.1:c.2583C>T | XP_011517325.1:p.Asp861= | |
| XM_011519024.1:c.2526C>T | XP_011517326.1:p.Asp842= | |
| XM_011519025.1:c.2502C>T | XP_011517327.1:p.Asp834= | |
| XM_011519026.1:c.2460C>T | XP_011517328.1:p.Asp820= | |
| XM_011519027.1:c.2604C>T | XP_011517329.1:p.Asp868= | |
| XM_011519029.1:c.1026C>T | XP_011517331.1:p.Asp342= | |
| XM_011519030.1:c.378C>T | XP_011517332.1:p.Asp126= | |
| XM_011519031.1:c.165C>T | XP_011517333.1:p.Asp55= | |
| XM_011519032.1:c.165C>T | XP_011517334.1:p.Asp55= | |
| XM_011519033.1:c.2439C>T | XP_011517335.1:p.Asp813= | |
| NM_001354263.1:c.2574C>T | NP_001341192.1:p.Asp858= | |
| XM_005266105.5:c.2586C>T | XP_005266162.1:p.Asp862= | |
| XM_011519021.3:c.2604C>T | XP_011517323.1:p.Asp868= | |
| XM_011519022.3:c.2601C>T | XP_011517324.1:p.Asp867= | |
| XM_011519023.3:c.2583C>T | XP_011517325.1:p.Asp861= | |
| XM_011519029.3:c.1026C>T | XP_011517331.1:p.Asp342= | |
| XM_011519030.3:c.378C>T | XP_011517332.1:p.Asp126= | |
| XM_017015134.1:c.2580C>T | XP_016870623.1:p.Asp860= | |
| XM_017015136.2:c.2496C>T | XP_016870625.1:p.Asp832= | |
| XM_017015137.1:c.2481C>T | XP_016870626.1:p.Asp827= | |
| XM_017015138.1:c.2481C>T | XP_016870627.1:p.Asp827= | |
| XM_024447674.1:c.2424C>T | XP_024303442.1:p.Asp808= | |
| XM_024447675.1:c.2358C>T | XP_024303443.1:p.Asp786= | |
| XM_024447676.1:c.1719C>T | XP_024303444.1:p.Asp573= | |
| XM_024447677.1:c.1719C>T | XP_024303445.1:p.Asp573= | |
| XM_024447678.1:c.2502C>T | XP_024303446.1:p.Asp834= | |
| XM_024447680.1:c.2337C>T | XP_024303448.1:p.Asp779= | |
| NM_024757.5:c.2595C>T MANE Select | NP_079033.4:p.Asp865= | |
| NM_001354263.2:c.2574C>T | NP_001341192.1:p.Asp858= |