Linked Data
ClinVar Variation Id:
2077857
dbSNP Id:
rs150144035
ExAC:
12:132425971 G / A
gnomAD v2:
12-132425971-G-A
gnomAD v3:
12-131941426-G-A
gnomAD v4:
12-131941426-G-A
COSMIC:
COSM314616
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941426G>A , CM000674.2:g.131941426G>A | GRCh38 |
| NC_000012.11:g.132425971G>A , CM000674.1:g.132425971G>A | GRCh37 |
| NC_000012.10:g.130991924G>A | NCBI36 |
| NG_013039.1:g.17227G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.679G>A MANE Select | ENSP00000365837.3:p.Glu227Lys | |
| ENST00000322060.9:c.595G>A | ENSP00000324726.5:p.Glu199Lys | |
| ENST00000376649.7:c.679G>A | ENSP00000365837.3:p.Glu227Lys | |
| ENST00000443358.6:c.595G>A | ENSP00000392451.2:p.Glu199Lys | |
| ENST00000535067.5:c.358-2113G>A | ENSP00000443969.1:n.358-2113G>A | |
| ENST00000542167.2:c.520G>A | ENSP00000438948.1:p.Glu174Lys | |
| ENST00000543754.1:n.500G>A | ||
| NM_001002019.2:c.595G>A | NP_001002019.1:p.Glu199Lys | |
| NM_001002020.2:c.595G>A | NP_001002020.1:p.Glu199Lys | |
| NM_025215.5:c.679G>A | NP_079491.2:p.Glu227Lys | |
| XM_011538768.1:c.280G>A | XP_011537070.1:p.Glu94Lys | |
| XM_011538768.3:c.280G>A | XP_011537070.1:p.Glu94Lys | |
| XR_001748872.1:n.1134G>A | ||
| NM_001002019.3:c.595G>A | NP_001002019.1:p.Glu199Lys | |
| NM_001002020.3:c.595G>A | NP_001002020.1:p.Glu199Lys | |
| NM_025215.6:c.679G>A MANE Select | NP_079491.2:p.Glu227Lys |