Linked Data
ClinVar Variation Id:
96149
dbSNP Id:
rs398124406
ExAC:
9:140693268 G / A
gnomAD v2:
9-140693268-G-A
gnomAD v3:
9-137798816-G-A
gnomAD v4:
9-137798816-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137798816G>A , CM000671.2:g.137798816G>A | GRCh38 |
| NC_000009.11:g.140693268G>A , CM000671.1:g.140693268G>A | GRCh37 |
| NC_000009.10:g.139813089G>A | NCBI36 |
| NG_011776.1:g.184825G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2509G>A MANE Select | ENSP00000417980.1:p.Ala837Thr | |
| ENST00000636027.1:c.2395G>A | ENSP00000489961.1:p.Ala799Thr | |
| ENST00000637161.1:c.2416G>A | ENSP00000490328.1:p.Ala806Thr | |
| ENST00000637261.1:c.2549G>A | ENSP00000490815.1:n.2549G>A | |
| ENST00000637277.1:n.75G>A | ||
| ENST00000637891.1:c.403G>A | ENSP00000490907.1:p.Ala135Thr | |
| ENST00000637949.1:c.187G>A | ENSP00000489786.1:p.Ala63Thr | |
| ENST00000460843.5:c.2509G>A | ENSP00000417980.1:p.Ala837Thr | |
| ENST00000462942.3:c.1366G>A | ENSP00000436107.1:p.Ala456Thr | |
| ENST00000482340.5:c.79G>A | ENSP00000486748.1:p.Ala27Thr | |
| ENST00000486164.5:c.87G>A | ||
| ENST00000493484.5:c.79G>A | ENSP00000486503.1:p.Ala27Thr | |
| NM_024757.4:c.2509G>A | NP_079033.4:p.Ala837Thr | |
| XM_005266105.3:c.2500G>A | XP_005266162.1:p.Ala834Thr | |
| XM_005266110.1:c.2416G>A | XP_005266167.1:p.Ala806Thr | |
| XM_006717288.2:c.2491G>A | XP_006717351.1:p.Ala831Thr | |
| XM_011519021.1:c.2518G>A | XP_011517323.1:p.Ala840Thr | |
| XM_011519022.1:c.2515G>A | XP_011517324.1:p.Ala839Thr | |
| XM_011519023.1:c.2497G>A | XP_011517325.1:p.Ala833Thr | |
| XM_011519024.1:c.2440G>A | XP_011517326.1:p.Ala814Thr | |
| XM_011519025.1:c.2416G>A | XP_011517327.1:p.Ala806Thr | |
| XM_011519026.1:c.2374G>A | XP_011517328.1:p.Ala792Thr | |
| XM_011519027.1:c.2518G>A | XP_011517329.1:p.Ala840Thr | |
| XM_011519029.1:c.940G>A | XP_011517331.1:p.Ala314Thr | |
| XM_011519030.1:c.292G>A | XP_011517332.1:p.Ala98Thr | |
| XM_011519031.1:c.79G>A | XP_011517333.1:p.Ala27Thr | |
| XM_011519032.1:c.79G>A | XP_011517334.1:p.Ala27Thr | |
| XM_011519033.1:c.2353G>A | XP_011517335.1:p.Ala785Thr | |
| NM_001354263.1:c.2488G>A | NP_001341192.1:p.Ala830Thr | |
| XM_005266105.5:c.2500G>A | XP_005266162.1:p.Ala834Thr | |
| XM_011519021.3:c.2518G>A | XP_011517323.1:p.Ala840Thr | |
| XM_011519022.3:c.2515G>A | XP_011517324.1:p.Ala839Thr | |
| XM_011519023.3:c.2497G>A | XP_011517325.1:p.Ala833Thr | |
| XM_011519029.3:c.940G>A | XP_011517331.1:p.Ala314Thr | |
| XM_011519030.3:c.292G>A | XP_011517332.1:p.Ala98Thr | |
| XM_017015134.1:c.2494G>A | XP_016870623.1:p.Ala832Thr | |
| XM_017015136.2:c.2410G>A | XP_016870625.1:p.Ala804Thr | |
| XM_017015137.1:c.2395G>A | XP_016870626.1:p.Ala799Thr | |
| XM_017015138.1:c.2395G>A | XP_016870627.1:p.Ala799Thr | |
| XM_024447674.1:c.2338G>A | XP_024303442.1:p.Ala780Thr | |
| XM_024447675.1:c.2272G>A | XP_024303443.1:p.Ala758Thr | |
| XM_024447676.1:c.1633G>A | XP_024303444.1:p.Ala545Thr | |
| XM_024447677.1:c.1633G>A | XP_024303445.1:p.Ala545Thr | |
| XM_024447678.1:c.2416G>A | XP_024303446.1:p.Ala806Thr | |
| XM_024447680.1:c.2251G>A | XP_024303448.1:p.Ala751Thr | |
| NM_024757.5:c.2509G>A MANE Select | NP_079033.4:p.Ala837Thr | |
| NM_001354263.2:c.2488G>A | NP_001341192.1:p.Ala830Thr |