Linked Data
ClinVar Variation Id:
1669276
ClinVar RCV Id:
RCV002194559
dbSNP Id:
rs375378545
ExAC:
16:3293432 C / T
gnomAD v2:
16-3293432-C-T
gnomAD v4:
16-3243432-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243432C>T , CM000678.2:g.3243432C>T | GRCh38 |
| NC_000016.9:g.3293432C>T , CM000678.1:g.3293432C>T | GRCh37 |
| NC_000016.8:g.3233433C>T | NCBI36 |
| NG_007871.1:g.18196G>A , LRG_190:g.18196G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1176G>A | ||
| ENST00000219596.6:c.2055G>A MANE Select | ENSP00000219596.1:p.Glu685= | |
| ENST00000219596.5:c.2055G>A | ENSP00000219596.1:p.Glu685= | |
| ENST00000339854.8:c.1515G>A | ENSP00000339639.4:p.Glu505= | |
| ENST00000536379.5:c.1422G>A | ENSP00000445079.1:p.Glu474= | |
| ENST00000536980.5:c.*331G>A | ENSP00000444178.1:n.*331G>A | |
| ENST00000537682.5:c.*331G>A | ENSP00000438611.1:n.*331G>A | |
| ENST00000538326.5:c.*680G>A | ENSP00000437486.1:n.*680G>A | |
| ENST00000539145.5:c.976G>A | ENSP00000444471.1:n.976G>A | |
| ENST00000541159.5:c.1597G>A | ENSP00000438711.1:n.1597G>A | |
| ENST00000542898.5:c.*331G>A | ENSP00000444615.1:n.*331G>A | |
| ENST00000570511.5:c.1460G>A | ENSP00000458312.1:n.1460G>A | |
| ENST00000572244.5:c.745G>A | ENSP00000461186.1:n.745G>A | |
| ENST00000574583.5:c.827G>A | ENSP00000460269.1:n.827G>A | |
| ENST00000576315.5:c.860G>A | ENSP00000460551.1:n.860G>A | |
| ENST00000621655.1:c.1592G>A | ENSP00000481436.1:n.1592G>A | |
| NM_000243.2:c.2055G>A , LRG_190t1:c.2055G>A | NP_000234.1:p.Glu685= | |
| NM_001198536.1:c.*259G>A | NP_001185465.1:n.*259G>A | |
| XM_017023236.2:c.2052G>A | XP_016878725.1:p.Glu684= | |
| NM_000243.3:c.2055G>A MANE Select | NP_000234.1:p.Glu685= | |
| NM_001198536.2:c.*259G>A | NP_001185465.2:n.*259G>A |