Linked Data
ClinVar Variation Id:
424614
dbSNP Id:
rs764291502
ExAC:
9:140707845 G / A
gnomAD v2:
9-140707845-G-A
gnomAD v3:
9-137813393-G-A
gnomAD v4:
9-137813393-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137813393G>A , CM000671.2:g.137813393G>A | GRCh38 |
| NC_000009.11:g.140707845G>A , CM000671.1:g.140707845G>A | GRCh37 |
| NC_000009.10:g.139827666G>A | NCBI36 |
| NG_011776.1:g.199402G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3043G>A MANE Select | ENSP00000417980.1:p.Ala1015Thr | |
| ENST00000636027.1:c.2929G>A | ENSP00000489961.1:p.Ala977Thr | |
| ENST00000637161.1:c.2950G>A | ENSP00000490328.1:p.Ala984Thr | |
| ENST00000637261.1:c.3083G>A | ENSP00000490815.1:n.3083G>A | |
| ENST00000637891.1:c.937G>A | ENSP00000490907.1:p.Ala313Thr | |
| ENST00000460843.5:c.3043G>A | ENSP00000417980.1:p.Ala1015Thr | |
| ENST00000462942.3:c.1900G>A | ENSP00000436107.1:p.Ala634Thr | |
| ENST00000486164.5:c.730G>A | ||
| ENST00000488242.2:n.569G>A | ||
| NM_024757.4:c.3043G>A | NP_079033.4:p.Ala1015Thr | |
| XM_005266105.3:c.3034G>A | XP_005266162.1:p.Ala1012Thr | |
| XM_005266110.1:c.2950G>A | XP_005266167.1:p.Ala984Thr | |
| XM_006717288.2:c.3025G>A | XP_006717351.1:p.Ala1009Thr | |
| XM_011519021.1:c.3052G>A | XP_011517323.1:p.Ala1018Thr | |
| XM_011519022.1:c.3049G>A | XP_011517324.1:p.Ala1017Thr | |
| XM_011519023.1:c.3031G>A | XP_011517325.1:p.Ala1011Thr | |
| XM_011519024.1:c.2974G>A | XP_011517326.1:p.Ala992Thr | |
| XM_011519025.1:c.2950G>A | XP_011517327.1:p.Ala984Thr | |
| XM_011519026.1:c.2908G>A | XP_011517328.1:p.Ala970Thr | |
| XM_011519029.1:c.1474G>A | XP_011517331.1:p.Ala492Thr | |
| XM_011519030.1:c.826G>A | XP_011517332.1:p.Ala276Thr | |
| XM_011519031.1:c.613G>A | XP_011517333.1:p.Ala205Thr | |
| XM_011519032.1:c.613G>A | XP_011517334.1:p.Ala205Thr | |
| XM_011519033.1:c.2887G>A | XP_011517335.1:p.Ala963Thr | |
| NM_001354263.1:c.3022G>A | NP_001341192.1:p.Ala1008Thr | |
| XM_005266105.5:c.3034G>A | XP_005266162.1:p.Ala1012Thr | |
| XM_011519021.3:c.3052G>A | XP_011517323.1:p.Ala1018Thr | |
| XM_011519022.3:c.3049G>A | XP_011517324.1:p.Ala1017Thr | |
| XM_011519023.3:c.3031G>A | XP_011517325.1:p.Ala1011Thr | |
| XM_011519029.3:c.1474G>A | XP_011517331.1:p.Ala492Thr | |
| XM_011519030.3:c.826G>A | XP_011517332.1:p.Ala276Thr | |
| XM_017015134.1:c.3028G>A | XP_016870623.1:p.Ala1010Thr | |
| XM_017015136.2:c.2944G>A | XP_016870625.1:p.Ala982Thr | |
| XM_017015137.1:c.2929G>A | XP_016870626.1:p.Ala977Thr | |
| XM_017015138.1:c.2929G>A | XP_016870627.1:p.Ala977Thr | |
| XM_024447674.1:c.2872G>A | XP_024303442.1:p.Ala958Thr | |
| XM_024447675.1:c.2806G>A | XP_024303443.1:p.Ala936Thr | |
| XM_024447676.1:c.2167G>A | XP_024303444.1:p.Ala723Thr | |
| XM_024447677.1:c.2167G>A | XP_024303445.1:p.Ala723Thr | |
| XM_024447680.1:c.2785G>A | XP_024303448.1:p.Ala929Thr | |
| NM_024757.5:c.3043G>A MANE Select | NP_079033.4:p.Ala1015Thr | |
| NM_001354263.2:c.3022G>A | NP_001341192.1:p.Ala1008Thr |