Linked Data
ClinVar Variation Id:
79154
dbSNP Id:
rs140281678
ExAC:
12:57970617 G / A
gnomAD v2:
12-57970617-G-A
gnomAD v3:
12-57576834-G-A
gnomAD v4:
12-57576834-G-A
COSMIC:
COSM1212482
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57576834G>A , CM000674.2:g.57576834G>A | GRCh38 |
| NC_000012.11:g.57970617G>A , CM000674.1:g.57970617G>A | GRCh37 |
| NC_000012.10:g.56256884G>A | NCBI36 |
| NG_008155.1:g.31771G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.2272G>A MANE Select | ENSP00000408979.2:p.Glu758Lys | |
| ENST00000674619.1:c.2272G>A | ENSP00000502270.1:p.Glu758Lys | |
| ENST00000675299.1:c.420G>A | ENSP00000501888.1:n.420G>A | |
| ENST00000675397.1:n.42G>A | ||
| ENST00000675882.1:n.1259G>A | ||
| ENST00000675929.1:n.830G>A | ||
| ENST00000675984.1:n.2342G>A | ||
| ENST00000676081.1:n.1917G>A | ||
| ENST00000676457.1:c.2167G>A | ENSP00000501588.1:p.Glu723Lys | |
| ENST00000286452.5:c.2005G>A | ENSP00000286452.5:p.Glu669Lys | |
| ENST00000455537.6:c.2272G>A | ENSP00000408979.2:p.Glu758Lys | |
| NM_004984.2:c.2272G>A | NP_004975.2:p.Glu758Lys | |
| NM_001354705.1:c.2005G>A | NP_001341634.1:p.Glu669Lys | |
| NM_004984.3:c.2272G>A | NP_004975.2:p.Glu758Lys | |
| XR_002957324.1:n.2505G>A | ||
| NM_004984.4:c.2272G>A MANE Select | NP_004975.2:p.Glu758Lys | |
| NM_001354705.2:c.2005G>A | NP_001341634.1:p.Glu669Lys |