Linked Data
ClinVar Variation Id:
495749
dbSNP Id:
rs763015849
ExAC:
16:3299630 C / T
gnomAD v2:
16-3299630-C-T
gnomAD v3:
16-3249630-C-T
gnomAD v4:
16-3249630-C-T
PubMed:
PMID:25974247
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3249630C>T , CM000678.2:g.3249630C>T | GRCh38 |
| NC_000016.9:g.3299630C>T , CM000678.1:g.3299630C>T | GRCh37 |
| NC_000016.8:g.3239631C>T | NCBI36 |
| NG_007871.1:g.11998G>A , LRG_190:g.11998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.1061G>A MANE Select | ENSP00000219596.1:p.Arg354Gln | |
| ENST00000219596.5:c.1061G>A | ENSP00000219596.1:p.Arg354Gln | |
| ENST00000339854.8:c.521G>A | ENSP00000339639.4:p.Arg174Gln | |
| ENST00000536379.5:c.428G>A | ENSP00000445079.1:p.Arg143Gln | |
| ENST00000536980.5:c.428G>A | ENSP00000444178.1:p.Arg143Gln | |
| ENST00000537682.5:c.1061G>A | ENSP00000438611.1:p.Arg354Gln | |
| ENST00000538326.5:c.1061G>A | ENSP00000437486.1:p.Arg354Gln | |
| ENST00000539145.5:c.278-2384G>A | ENSP00000444471.1:n.278-2384G>A | |
| ENST00000541159.5:c.428G>A | ENSP00000438711.1:p.Arg143Gln | |
| ENST00000542898.5:c.1154G>A | ENSP00000444615.1:p.Arg385Gln | |
| ENST00000570511.5:c.911-2384G>A | ENSP00000458312.1:n.911-2384G>A | |
| ENST00000572244.5:c.278-3083G>A | ENSP00000461186.1:n.278-3083G>A | |
| ENST00000574583.5:c.278-2384G>A | ENSP00000460269.1:n.278-2384G>A | |
| ENST00000576315.5:c.278-2384G>A | ENSP00000460551.1:n.278-2384G>A | |
| ENST00000621655.1:c.428G>A | ENSP00000481436.1:p.Arg143Gln | |
| NM_000243.2:c.1061G>A , LRG_190t1:c.1061G>A | NP_000234.1:p.Arg354Gln | |
| NM_001198536.1:c.428G>A | NP_001185465.1:p.Arg143Gln | |
| XM_017023236.2:c.1061G>A | XP_016878725.1:p.Arg354Gln | |
| XR_001751903.1:n.1250G>A | ||
| NM_000243.3:c.1061G>A MANE Select | NP_000234.1:p.Arg354Gln | |
| NM_001198536.2:c.428G>A | NP_001185465.2:p.Arg143Gln |