Linked Data
ClinVar Variation Id:
859291
dbSNP Id:
rs575777099
ExAC:
3:93619687 C / T
gnomAD v2:
3-93619687-C-T
gnomAD v3:
3-93900843-C-T
gnomAD v4:
3-93900843-C-T
COSMIC:
COSM1048926
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93900843C>T , CM000665.2:g.93900843C>T | GRCh38 |
| NC_000003.11:g.93619687C>T , CM000665.1:g.93619687C>T | GRCh37 |
| NC_000003.10:g.95102377C>T | NCBI36 |
| NG_009813.1:g.78248G>A , LRG_572:g.78248G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.688G>A | ENSP00000330021.7:p.Glu230Lys | |
| ENST00000394236.9:c.688G>A MANE Select | ENSP00000377783.3:p.Glu230Lys | |
| ENST00000407433.6:c.643G>A | ENSP00000385794.2:p.Glu215Lys | |
| ENST00000647936.1:c.688G>A | ENSP00000496822.1:p.Glu230Lys | |
| ENST00000648381.1:n.856G>A | ||
| ENST00000648853.1:c.646G>A | ENSP00000497262.1:p.Glu216Lys | |
| ENST00000649103.1:c.787G>A | ENSP00000497962.1:n.787G>A | |
| ENST00000650591.1:c.784G>A | ENSP00000497376.1:p.Glu262Lys | |
| ENST00000394236.7:c.688G>A | ENSP00000377783.3:p.Glu230Lys | |
| ENST00000407433.5:c.295G>A | ENSP00000385794.1:p.Glu99Lys | |
| NM_000313.3:c.688G>A , LRG_572t1:c.688G>A | NP_000304.2:p.Glu230Lys | |
| NM_001314077.1:c.784G>A , LRG_572t2:c.784G>A | NP_001301006.1:p.Glu262Lys | |
| NM_000313.4:c.688G>A MANE Select | NP_000304.2:p.Glu230Lys | |
| NM_001314077.2:c.784G>A | NP_001301006.1:p.Glu262Lys |