Linked Data
ClinVar Variation Id:
206987
ClinVar RCV Id:
RCV000189136
RCV000302248
RCV000463410
RCV000725887
RCV000655981
RCV001329197
RCV003224211
RCV003985294
dbSNP Id:
rs200138205
ExAC:
2:166221710 G / A
gnomAD v2:
2-166221710-G-A
gnomAD v3:
2-165365200-G-A
gnomAD v4:
2-165365200-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165365200G>A , CM000664.2:g.165365200G>A | GRCh38 |
| NC_000002.11:g.166221710G>A , CM000664.1:g.166221710G>A | GRCh37 |
| NC_000002.10:g.165929956G>A | NCBI36 |
| NG_008143.1:g.130799G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000631182.3:c.3457G>A MANE Plus Clinical | ENSP00000486885.1:p.Glu1153Lys | |
| ENST00000375437.7:c.3457G>A MANE Select | ENSP00000364586.2:p.Glu1153Lys | |
| ENST00000636071.2:c.3457G>A | ENSP00000490107.1:p.Glu1153Lys | |
| ENST00000636135.1:c.*1776G>A | ENSP00000489821.1:n.*1776G>A | |
| ENST00000636384.2:c.*1444G>A | ENSP00000490765.1:n.*1444G>A | |
| ENST00000636662.2:c.*3980G>A | ENSP00000489873.1:n.*3980G>A | |
| ENST00000636769.1:c.*1399G>A | ENSP00000490800.1:n.*1399G>A | |
| ENST00000636985.2:c.3061G>A | ENSP00000490849.1:p.Glu1021Lys | |
| ENST00000637266.2:c.3457G>A | ENSP00000490866.1:p.Glu1153Lys | |
| ENST00000674133.1:c.1392G>A | ||
| ENST00000283256.10:c.3457G>A | ENSP00000283256.6:p.Glu1153Lys | |
| ENST00000375427.4:c.3457G>A | ENSP00000364576.2:p.Glu1153Lys | |
| ENST00000375437.6:c.3457G>A | ENSP00000364586.2:p.Glu1153Lys | |
| ENST00000480032.4:n.3600G>A | ||
| ENST00000631182.2:c.3457G>A | ENSP00000486885.1:p.Glu1153Lys | |
| NM_001040142.1:c.3457G>A | NP_001035232.1:p.Glu1153Lys | |
| NM_001040143.1:c.3457G>A | NP_001035233.1:p.Glu1153Lys | |
| NM_021007.2:c.3457G>A | NP_066287.2:p.Glu1153Lys | |
| XM_005246750.2:c.3457G>A | XP_005246807.1:p.Glu1153Lys | |
| XM_005246753.2:c.3457G>A | XP_005246810.1:p.Glu1153Lys | |
| XM_005246754.3:c.3427G>A | XP_005246811.1:p.Glu1143Lys | |
| XM_005246755.3:c.2704G>A | XP_005246812.1:p.Glu902Lys | |
| XM_011511608.1:c.3457G>A | XP_011509910.1:p.Glu1153Lys | |
| XM_011511609.1:c.3457G>A | XP_011509911.1:p.Glu1153Lys | |
| XM_005246753.3:c.3457G>A | XP_005246810.1:p.Glu1153Lys | |
| XM_017004656.1:c.3457G>A | XP_016860145.1:p.Glu1153Lys | |
| XM_017004657.1:c.3457G>A | XP_016860146.1:p.Glu1153Lys | |
| XM_017004658.1:c.2704G>A | XP_016860147.1:p.Glu902Lys | |
| XM_017004659.1:c.1255G>A | XP_016860148.1:p.Glu419Lys | |
| XM_024453037.1:c.2704G>A | XP_024308805.1:p.Glu902Lys | |
| NM_001040142.2:c.3457G>A MANE Select | NP_001035232.1:p.Glu1153Lys | |
| NM_001040143.2:c.3457G>A | NP_001035233.1:p.Glu1153Lys | |
| NM_001371246.1:c.3457G>A MANE Plus Clinical | NP_001358175.1:p.Glu1153Lys | |
| NM_001371247.1:c.3457G>A | NP_001358176.1:p.Glu1153Lys | |
| NM_021007.3:c.3457G>A | NP_066287.2:p.Glu1153Lys |