Linked Data
ClinVar Variation Id:
190395
ClinVar RCV Id:
RCV000170533
dbSNP Id:
rs147914967
ExAC:
2:47177528 G / A
gnomAD v2:
2-47177528-G-A
gnomAD v3:
2-46950389-G-A
gnomAD v4:
2-46950389-G-A
COSMIC:
COSM3799037
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46950389G>A , CM000664.2:g.46950389G>A | GRCh38 |
| NC_000002.11:g.47177528G>A , CM000664.1:g.47177528G>A | GRCh37 |
| NC_000002.10:g.47031032G>A | NCBI36 |
| NG_034143.1:g.39261G>A | |
| NG_034143.2:g.39261G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698500.1:n.830G>A | ||
| ENST00000698501.1:n.532G>A | ||
| ENST00000698502.1:n.192G>A | ||
| ENST00000319190.11:c.211G>A MANE Select | ENSP00000316699.5:p.Glu71Lys | |
| ENST00000319190.9:c.211G>A | ENSP00000316699.5:p.Glu71Lys | |
| ENST00000394850.6:c.211G>A | ENSP00000378320.2:p.Glu71Lys | |
| ENST00000409245.5:c.109G>A | ENSP00000386307.1:p.Glu37Lys | |
| ENST00000441914.5:c.210G>A | ||
| ENST00000461601.5:n.478G>A | ||
| NM_001288951.1:c.211G>A | NP_001275880.1:p.Glu71Lys | |
| NM_001288953.1:c.109G>A | NP_001275882.1:p.Glu37Lys | |
| NM_001288955.1:c.-694G>A | NP_001275884.1:n.-694G>A | |
| NM_020458.3:c.211G>A | NP_065191.2:p.Glu71Lys | |
| XM_011532999.1:c.211G>A | XP_011531301.1:p.Glu71Lys | |
| XR_939696.1:n.516G>A | ||
| XM_005264439.4:c.-205G>A | XP_005264496.1:n.-205G>A | |
| XM_011532998.3:c.-270G>A | XP_011531300.1:n.-270G>A | |
| XM_011532999.2:c.211G>A | XP_011531301.1:p.Glu71Lys | |
| XM_017004524.1:c.211G>A | XP_016860013.1:p.Glu71Lys | |
| XM_017004525.1:c.43G>A | XP_016860014.1:p.Glu15Lys | |
| XM_017004526.1:c.211G>A | XP_016860015.1:p.Glu71Lys | |
| XM_017004529.1:c.211G>A | XP_016860018.1:p.Glu71Lys | |
| XR_001738853.2:n.523G>A | ||
| XR_001738854.1:n.522G>A | ||
| NM_020458.4:c.211G>A MANE Select | NP_065191.2:p.Glu71Lys | |
| NM_001288951.2:c.211G>A | NP_001275880.1:p.Glu71Lys | |
| NM_001288953.2:c.109G>A | NP_001275882.1:p.Glu37Lys | |
| NM_001288955.2:c.-694G>A | NP_001275884.1:n.-694G>A |