Linked Data
ClinVar Variation Id:
210922
dbSNP Id:
rs797045555
gnomAD v2:
9-140706039-G-A
gnomAD v4:
9-137811587-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137811587G>A , CM000671.2:g.137811587G>A | GRCh38 |
| NC_000009.11:g.140706039G>A , CM000671.1:g.140706039G>A | GRCh37 |
| NC_000009.10:g.139825860G>A | NCBI36 |
| NG_011776.1:g.197596G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2839G>A MANE Select | ENSP00000417980.1:p.Ala947Thr | |
| ENST00000636027.1:c.2725G>A | ENSP00000489961.1:p.Ala909Thr | |
| ENST00000637161.1:c.2746G>A | ENSP00000490328.1:p.Ala916Thr | |
| ENST00000637261.1:c.2879G>A | ENSP00000490815.1:n.2879G>A | |
| ENST00000637891.1:c.733G>A | ENSP00000490907.1:p.Ala245Thr | |
| ENST00000460843.5:c.2839G>A | ENSP00000417980.1:p.Ala947Thr | |
| ENST00000462942.3:c.1696G>A | ENSP00000436107.1:p.Ala566Thr | |
| ENST00000486164.5:c.526G>A | ||
| ENST00000488242.2:n.365G>A | ||
| NM_024757.4:c.2839G>A | NP_079033.4:p.Ala947Thr | |
| XM_005266105.3:c.2830G>A | XP_005266162.1:p.Ala944Thr | |
| XM_005266110.1:c.2746G>A | XP_005266167.1:p.Ala916Thr | |
| XM_006717288.2:c.2821G>A | XP_006717351.1:p.Ala941Thr | |
| XM_011519021.1:c.2848G>A | XP_011517323.1:p.Ala950Thr | |
| XM_011519022.1:c.2845G>A | XP_011517324.1:p.Ala949Thr | |
| XM_011519023.1:c.2827G>A | XP_011517325.1:p.Ala943Thr | |
| XM_011519024.1:c.2770G>A | XP_011517326.1:p.Ala924Thr | |
| XM_011519025.1:c.2746G>A | XP_011517327.1:p.Ala916Thr | |
| XM_011519026.1:c.2704G>A | XP_011517328.1:p.Ala902Thr | |
| XM_011519029.1:c.1270G>A | XP_011517331.1:p.Ala424Thr | |
| XM_011519030.1:c.622G>A | XP_011517332.1:p.Ala208Thr | |
| XM_011519031.1:c.409G>A | XP_011517333.1:p.Ala137Thr | |
| XM_011519032.1:c.409G>A | XP_011517334.1:p.Ala137Thr | |
| XM_011519033.1:c.2683G>A | XP_011517335.1:p.Ala895Thr | |
| NM_001354263.1:c.2818G>A | NP_001341192.1:p.Ala940Thr | |
| XM_005266105.5:c.2830G>A | XP_005266162.1:p.Ala944Thr | |
| XM_011519021.3:c.2848G>A | XP_011517323.1:p.Ala950Thr | |
| XM_011519022.3:c.2845G>A | XP_011517324.1:p.Ala949Thr | |
| XM_011519023.3:c.2827G>A | XP_011517325.1:p.Ala943Thr | |
| XM_011519029.3:c.1270G>A | XP_011517331.1:p.Ala424Thr | |
| XM_011519030.3:c.622G>A | XP_011517332.1:p.Ala208Thr | |
| XM_017015134.1:c.2824G>A | XP_016870623.1:p.Ala942Thr | |
| XM_017015136.2:c.2740G>A | XP_016870625.1:p.Ala914Thr | |
| XM_017015137.1:c.2725G>A | XP_016870626.1:p.Ala909Thr | |
| XM_017015138.1:c.2725G>A | XP_016870627.1:p.Ala909Thr | |
| XM_024447674.1:c.2668G>A | XP_024303442.1:p.Ala890Thr | |
| XM_024447675.1:c.2602G>A | XP_024303443.1:p.Ala868Thr | |
| XM_024447676.1:c.1963G>A | XP_024303444.1:p.Ala655Thr | |
| XM_024447677.1:c.1963G>A | XP_024303445.1:p.Ala655Thr | |
| XM_024447680.1:c.2581G>A | XP_024303448.1:p.Ala861Thr | |
| NM_024757.5:c.2839G>A MANE Select | NP_079033.4:p.Ala947Thr | |
| NM_001354263.2:c.2818G>A | NP_001341192.1:p.Ala940Thr |