Linked Data
ClinVar Variation Id:
3114176
ClinVar RCV Id:
RCV004411527
dbSNP Id:
rs905097885
gnomAD v2:
2-202568874-C-T
gnomAD v3:
2-201704151-C-T
gnomAD v4:
2-201704151-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201704151C>T , CM000664.2:g.201704151C>T | GRCh38 |
| NC_000002.11:g.202568874C>T , CM000664.1:g.202568874C>T | GRCh37 |
| NC_000002.10:g.202277119C>T | NCBI36 |
| NG_008775.1:g.82022G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264276.11:c.4906G>A MANE Select | ENSP00000264276.6:p.Glu1636Lys | |
| ENST00000439495.6:c.*1086G>A | ENSP00000403832.2:n.*1086G>A | |
| ENST00000679409.1:c.*1611G>A | ENSP00000506531.1:n.*1611G>A | |
| ENST00000679416.1:n.6410G>A | ||
| ENST00000679427.1:n.2577G>A | ||
| ENST00000679435.1:c.4906G>A | ENSP00000505218.1:p.Glu1636Lys | |
| ENST00000679516.1:c.4906G>A | ENSP00000505187.1:p.Glu1636Lys | |
| ENST00000679618.1:c.*1994G>A | ENSP00000506274.1:n.*1994G>A | |
| ENST00000679630.1:n.6755G>A | ||
| ENST00000679635.1:n.3168G>A | ||
| ENST00000679686.1:n.5020G>A | ||
| ENST00000679701.1:n.7898G>A | ||
| ENST00000679916.1:c.*1254G>A | ENSP00000506172.1:n.*1254G>A | |
| ENST00000680000.1:c.4906G>A | ENSP00000506173.1:p.Glu1636Lys | |
| ENST00000680135.1:c.*2867G>A | ENSP00000506211.1:n.*2867G>A | |
| ENST00000680149.1:c.*188G>A | ENSP00000506497.1:n.*188G>A | |
| ENST00000680163.1:c.4906G>A | ENSP00000505092.1:p.Glu1636Lys | |
| ENST00000680174.1:n.5597G>A | ||
| ENST00000680236.1:c.*1967G>A | ENSP00000506212.1:n.*1967G>A | |
| ENST00000680404.1:n.421G>A | ||
| ENST00000680441.1:n.3464G>A | ||
| ENST00000680497.1:c.5008G>A | ENSP00000505954.1:p.Glu1670Lys | |
| ENST00000680508.1:c.*62G>A | ENSP00000505749.1:n.*62G>A | |
| ENST00000680569.1:c.*2849G>A | ENSP00000505522.1:n.*2849G>A | |
| ENST00000680634.1:n.1414G>A | ||
| ENST00000680722.1:n.2706G>A | ||
| ENST00000680726.1:c.*188G>A | ENSP00000505505.1:n.*188G>A | |
| ENST00000680759.1:c.4738G>A | ENSP00000505848.1:p.Glu1580Lys | |
| ENST00000680814.1:c.4838+303G>A | ENSP00000505710.1:n.4838+303G>A | |
| ENST00000680828.1:c.*2600G>A | ENSP00000505249.1:n.*2600G>A | |
| ENST00000680861.1:c.4906G>A | ENSP00000505043.1:p.Glu1636Lys | |
| ENST00000680927.1:c.*1086G>A | ENSP00000505473.1:n.*1086G>A | |
| ENST00000680939.1:n.6847G>A | ||
| ENST00000681250.1:c.*1623G>A | ENSP00000505684.1:n.*1623G>A | |
| ENST00000681256.1:c.*2921G>A | ENSP00000505446.1:n.*2921G>A | |
| ENST00000681279.1:n.5772G>A | ||
| ENST00000681307.1:n.6019G>A | ||
| ENST00000681461.1:n.5674G>A | ||
| ENST00000681495.1:c.2443G>A | ENSP00000506085.1:p.Glu815Lys | |
| ENST00000681558.1:c.2584G>A | ENSP00000505568.1:p.Glu862Lys | |
| ENST00000681619.1:c.4903G>A | ENSP00000505071.1:p.Glu1635Lys | |
| ENST00000681663.1:n.1812G>A | ||
| ENST00000681692.1:n.2866G>A | ||
| ENST00000681716.1:c.*2760G>A | ENSP00000505078.1:n.*2760G>A | |
| ENST00000681768.1:c.*2570G>A | ENSP00000506311.1:n.*2570G>A | |
| ENST00000681808.1:c.4729G>A | ENSP00000505219.1:p.Glu1577Lys | |
| ENST00000264276.10:c.4906G>A | ENSP00000264276.6:p.Glu1636Lys | |
| ENST00000439495.5:c.3010G>A | ||
| NM_020919.3:c.4906G>A | NP_065970.2:p.Glu1636Lys | |
| XM_005246709.2:c.4903G>A | XP_005246766.1:p.Glu1635Lys | |
| XM_006712654.1:c.4906G>A | XP_006712717.1:p.Glu1636Lys | |
| XM_006712655.2:c.2842G>A | XP_006712718.1:p.Glu948Lys | |
| XM_011511530.1:c.4567G>A | XP_011509832.1:p.Glu1523Lys | |
| XR_922974.1:n.5184G>A | ||
| XM_006712654.3:c.4906G>A | XP_006712717.1:p.Glu1636Lys | |
| XM_006712655.3:c.2842G>A | XP_006712718.1:p.Glu948Lys | |
| XM_017004569.2:c.4903G>A | XP_016860058.1:p.Glu1635Lys | |
| XM_017004572.2:c.2524G>A | XP_016860061.1:p.Glu842Lys | |
| XM_024453024.1:c.4567G>A | XP_024308792.1:p.Glu1523Lys | |
| XM_024453025.1:c.2839G>A | XP_024308793.1:p.Glu947Lys | |
| XR_001738864.2:n.5021G>A | ||
| XR_001738865.2:n.5018G>A | ||
| XR_001738866.2:n.5184G>A | ||
| XR_001738867.2:n.5181G>A | ||
| XR_002959320.1:n.4077G>A | ||
| NM_020919.4:c.4906G>A MANE Select | NP_065970.2:p.Glu1636Lys |