Linked Data
ClinVar Variation Id:
234366
dbSNP Id:
rs746092199
ExAC:
16:3293341 T / C
gnomAD v2:
16-3293341-T-C
gnomAD v3:
16-3243341-T-C
gnomAD v4:
16-3243341-T-C
COSMIC:
COSM4748893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243341T>C , CM000678.2:g.3243341T>C | GRCh38 |
| NC_000016.9:g.3293341T>C , CM000678.1:g.3293341T>C | GRCh37 |
| NC_000016.8:g.3233342T>C | NCBI36 |
| NG_007871.1:g.18287A>G , LRG_190:g.18287A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1267A>G | ||
| ENST00000219596.6:c.2146A>G MANE Select | ENSP00000219596.1:p.Lys716Glu | |
| ENST00000219596.5:c.2146A>G | ENSP00000219596.1:p.Lys716Glu | |
| ENST00000339854.8:c.1606A>G | ENSP00000339639.4:p.Lys536Glu | |
| ENST00000536379.5:c.1513A>G | ENSP00000445079.1:p.Lys505Glu | |
| ENST00000536980.5:c.*422A>G | ENSP00000444178.1:n.*422A>G | |
| ENST00000537682.5:c.*422A>G | ENSP00000438611.1:n.*422A>G | |
| ENST00000538326.5:c.*771A>G | ENSP00000437486.1:n.*771A>G | |
| ENST00000539145.5:c.1067A>G | ENSP00000444471.1:n.1067A>G | |
| ENST00000541159.5:c.1688A>G | ENSP00000438711.1:n.1688A>G | |
| ENST00000542898.5:c.*422A>G | ENSP00000444615.1:n.*422A>G | |
| ENST00000570511.5:c.1551A>G | ENSP00000458312.1:n.1551A>G | |
| ENST00000572244.5:c.836A>G | ENSP00000461186.1:n.836A>G | |
| ENST00000574583.5:c.918A>G | ENSP00000460269.1:n.918A>G | |
| ENST00000576315.5:c.951A>G | ENSP00000460551.1:n.951A>G | |
| ENST00000621655.1:c.1683A>G | ENSP00000481436.1:n.1683A>G | |
| NM_000243.2:c.2146A>G , LRG_190t1:c.2146A>G | NP_000234.1:p.Lys716Glu | |
| NM_001198536.1:c.*350A>G | NP_001185465.1:n.*350A>G | |
| XM_017023236.2:c.2143A>G | XP_016878725.1:p.Lys715Glu | |
| NM_000243.3:c.2146A>G MANE Select | NP_000234.1:p.Lys716Glu | |
| NM_001198536.2:c.*350A>G | NP_001185465.2:n.*350A>G |