Linked Data
ClinVar Variation Id:
282980
dbSNP Id:
rs765569983
ExAC:
9:140707896 G / A
gnomAD v2:
9-140707896-G-A
gnomAD v3:
9-137813444-G-A
gnomAD v4:
9-137813444-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137813444G>A , CM000671.2:g.137813444G>A | GRCh38 |
| NC_000009.11:g.140707896G>A , CM000671.1:g.140707896G>A | GRCh37 |
| NC_000009.10:g.139827717G>A | NCBI36 |
| NG_011776.1:g.199453G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3094G>A MANE Select | ENSP00000417980.1:p.Glu1032Lys | |
| ENST00000637161.1:c.3001G>A | ENSP00000490328.1:p.Glu1001Lys | |
| ENST00000637261.1:c.3134G>A | ENSP00000490815.1:n.3134G>A | |
| ENST00000637891.1:c.988G>A | ENSP00000490907.1:p.Glu330Lys | |
| ENST00000460843.5:c.3094G>A | ENSP00000417980.1:p.Glu1032Lys | |
| ENST00000462942.3:c.1951G>A | ENSP00000436107.1:p.Glu651Lys | |
| ENST00000486164.5:c.781G>A | ||
| ENST00000488242.2:n.620G>A | ||
| NM_024757.4:c.3094G>A | NP_079033.4:p.Glu1032Lys | |
| XM_005266105.3:c.3085G>A | XP_005266162.1:p.Glu1029Lys | |
| XM_005266110.1:c.3001G>A | XP_005266167.1:p.Glu1001Lys | |
| XM_006717288.2:c.3076G>A | XP_006717351.1:p.Glu1026Lys | |
| XM_011519021.1:c.3103G>A | XP_011517323.1:p.Glu1035Lys | |
| XM_011519022.1:c.3100G>A | XP_011517324.1:p.Glu1034Lys | |
| XM_011519023.1:c.3082G>A | XP_011517325.1:p.Glu1028Lys | |
| XM_011519024.1:c.3025G>A | XP_011517326.1:p.Glu1009Lys | |
| XM_011519025.1:c.3001G>A | XP_011517327.1:p.Glu1001Lys | |
| XM_011519026.1:c.2959G>A | XP_011517328.1:p.Glu987Lys | |
| XM_011519029.1:c.1525G>A | XP_011517331.1:p.Glu509Lys | |
| XM_011519030.1:c.877G>A | XP_011517332.1:p.Glu293Lys | |
| XM_011519031.1:c.664G>A | XP_011517333.1:p.Glu222Lys | |
| XM_011519032.1:c.664G>A | XP_011517334.1:p.Glu222Lys | |
| XM_011519033.1:c.2938G>A | XP_011517335.1:p.Glu980Lys | |
| NM_001354263.1:c.3073G>A | NP_001341192.1:p.Glu1025Lys | |
| XM_005266105.5:c.3085G>A | XP_005266162.1:p.Glu1029Lys | |
| XM_011519021.3:c.3103G>A | XP_011517323.1:p.Glu1035Lys | |
| XM_011519022.3:c.3100G>A | XP_011517324.1:p.Glu1034Lys | |
| XM_011519023.3:c.3082G>A | XP_011517325.1:p.Glu1028Lys | |
| XM_011519029.3:c.1525G>A | XP_011517331.1:p.Glu509Lys | |
| XM_011519030.3:c.877G>A | XP_011517332.1:p.Glu293Lys | |
| XM_017015134.1:c.3079G>A | XP_016870623.1:p.Glu1027Lys | |
| XM_017015136.2:c.2995G>A | XP_016870625.1:p.Glu999Lys | |
| XM_017015137.1:c.2980G>A | XP_016870626.1:p.Glu994Lys | |
| XM_017015138.1:c.2980G>A | XP_016870627.1:p.Glu994Lys | |
| XM_024447674.1:c.2923G>A | XP_024303442.1:p.Glu975Lys | |
| XM_024447675.1:c.2857G>A | XP_024303443.1:p.Glu953Lys | |
| XM_024447676.1:c.2218G>A | XP_024303444.1:p.Glu740Lys | |
| XM_024447677.1:c.2218G>A | XP_024303445.1:p.Glu740Lys | |
| XM_024447680.1:c.2836G>A | XP_024303448.1:p.Glu946Lys | |
| NM_024757.5:c.3094G>A MANE Select | NP_079033.4:p.Glu1032Lys | |
| NM_001354263.2:c.3073G>A | NP_001341192.1:p.Glu1025Lys |