Linked Data
ClinVar Variation Id:
1419964
ClinVar RCV Id:
RCV001910754
dbSNP Id:
rs200877860
ExAC:
1:67724698 G / A
gnomAD v2:
1-67724698-G-A
gnomAD v3:
1-67259015-G-A
gnomAD v4:
1-67259015-G-A
COSMIC:
COSM1687861
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67259015G>A , CM000663.2:g.67259015G>A | GRCh38 |
| NC_000001.10:g.67724698G>A , CM000663.1:g.67724698G>A | GRCh37 |
| NC_000001.9:g.67497286G>A | NCBI36 |
| NG_011498.1:g.97530G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697149.1:c.1616G>A | ENSP00000513138.1:n.1616G>A | |
| ENST00000697150.1:c.1674G>A | ENSP00000513139.1:n.1674G>A | |
| ENST00000697151.1:c.1607G>A | ENSP00000513140.1:n.1607G>A | |
| ENST00000697164.1:c.1687G>A | ENSP00000513153.1:p.Glu563Lys | |
| ENST00000697165.1:c.1474G>A | ENSP00000513154.1:p.Glu492Lys | |
| ENST00000347310.10:c.1777G>A MANE Select | ENSP00000321345.5:p.Glu593Lys | |
| ENST00000637002.1:c.1168G>A | ENSP00000490340.1:p.Glu390Lys | |
| ENST00000347310.9:c.1777G>A | ENSP00000321345.5:p.Glu593Lys | |
| ENST00000395227.2:c.571G>A | ENSP00000378652.2:p.Glu191Lys | |
| ENST00000425614.3:c.1012G>A | ENSP00000387640.2:p.Glu338Lys | |
| ENST00000473881.2:c.*603G>A | ENSP00000486667.1:n.*603G>A | |
| NM_144701.2:c.1777G>A | NP_653302.2:p.Glu593Lys | |
| XM_005270516.2:c.1015G>A | XP_005270573.1:p.Glu339Lys | |
| XM_011540789.1:c.1867G>A | XP_011539091.1:p.Glu623Lys | |
| XM_011540790.1:c.1777G>A | XP_011539092.1:p.Glu593Lys | |
| XM_011540791.1:c.1777G>A | XP_011539093.1:p.Glu593Lys | |
| XM_011540790.3:c.1777G>A | XP_011539092.1:p.Glu593Lys | |
| XM_011540791.3:c.1777G>A | XP_011539093.1:p.Glu593Lys | |
| XR_001736993.1:n.1857G>A | ||
| NM_144701.3:c.1777G>A MANE Select | NP_653302.2:p.Glu593Lys |