Linked Data
ClinVar Variation Id:
497474
dbSNP Id:
rs199780189
ExAC:
9:140710462 G / A
gnomAD v2:
9-140710462-G-A
gnomAD v3:
9-137816010-G-A
gnomAD v4:
9-137816010-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137816010G>A , CM000671.2:g.137816010G>A | GRCh38 |
| NC_000009.11:g.140710462G>A , CM000671.1:g.140710462G>A | GRCh37 |
| NC_000009.10:g.139830283G>A | NCBI36 |
| NG_011776.1:g.202019G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3322G>A MANE Select | ENSP00000417980.1:p.Ala1108Thr | |
| ENST00000635741.1:n.11G>A | ||
| ENST00000637161.1:c.3229G>A | ENSP00000490328.1:p.Ala1077Thr | |
| ENST00000637261.1:c.3362G>A | ENSP00000490815.1:n.3362G>A | |
| ENST00000637748.1:n.259G>A | ||
| ENST00000637891.1:c.1396G>A | ENSP00000490907.1:n.1396G>A | |
| ENST00000460843.5:c.3322G>A | ENSP00000417980.1:p.Ala1108Thr | |
| ENST00000462942.3:c.2179G>A | ENSP00000436107.1:p.Ala727Thr | |
| ENST00000494249.5:n.675G>A | ||
| NM_024757.4:c.3322G>A | NP_079033.4:p.Ala1108Thr | |
| XM_005266105.3:c.3313G>A | XP_005266162.1:p.Ala1105Thr | |
| XM_005266110.1:c.3229G>A | XP_005266167.1:p.Ala1077Thr | |
| XM_006717288.2:c.3304G>A | XP_006717351.1:p.Ala1102Thr | |
| XM_011519021.1:c.3331G>A | XP_011517323.1:p.Ala1111Thr | |
| XM_011519022.1:c.3328G>A | XP_011517324.1:p.Ala1110Thr | |
| XM_011519023.1:c.3310G>A | XP_011517325.1:p.Ala1104Thr | |
| XM_011519024.1:c.3253G>A | XP_011517326.1:p.Ala1085Thr | |
| XM_011519025.1:c.3229G>A | XP_011517327.1:p.Ala1077Thr | |
| XM_011519026.1:c.3187G>A | XP_011517328.1:p.Ala1063Thr | |
| XM_011519029.1:c.1753G>A | XP_011517331.1:p.Ala585Thr | |
| XM_011519030.1:c.1105G>A | XP_011517332.1:p.Ala369Thr | |
| XM_011519031.1:c.892G>A | XP_011517333.1:p.Ala298Thr | |
| XM_011519032.1:c.892G>A | XP_011517334.1:p.Ala298Thr | |
| XM_011519033.1:c.3166G>A | XP_011517335.1:p.Ala1056Thr | |
| XR_930459.1:n.5297-1448C>T | ||
| NM_001354263.1:c.3301G>A | NP_001341192.1:p.Ala1101Thr | |
| XM_005266105.5:c.3313G>A | XP_005266162.1:p.Ala1105Thr | |
| XM_011519021.3:c.3331G>A | XP_011517323.1:p.Ala1111Thr | |
| XM_011519022.3:c.3328G>A | XP_011517324.1:p.Ala1110Thr | |
| XM_011519023.3:c.3310G>A | XP_011517325.1:p.Ala1104Thr | |
| XM_011519029.3:c.1753G>A | XP_011517331.1:p.Ala585Thr | |
| XM_011519030.3:c.1105G>A | XP_011517332.1:p.Ala369Thr | |
| XM_017015134.1:c.3307G>A | XP_016870623.1:p.Ala1103Thr | |
| XM_017015136.2:c.3223G>A | XP_016870625.1:p.Ala1075Thr | |
| XM_017015137.1:c.3208G>A | XP_016870626.1:p.Ala1070Thr | |
| XM_017015138.1:c.3208G>A | XP_016870627.1:p.Ala1070Thr | |
| XM_024447674.1:c.3151G>A | XP_024303442.1:p.Ala1051Thr | |
| XM_024447675.1:c.3085G>A | XP_024303443.1:p.Ala1029Thr | |
| XM_024447676.1:c.2446G>A | XP_024303444.1:p.Ala816Thr | |
| XM_024447677.1:c.2446G>A | XP_024303445.1:p.Ala816Thr | |
| XM_024447680.1:c.3064G>A | XP_024303448.1:p.Ala1022Thr | |
| NM_024757.5:c.3322G>A MANE Select | NP_079033.4:p.Ala1108Thr | |
| NM_001354263.2:c.3301G>A | NP_001341192.1:p.Ala1101Thr |