Linked Data
ClinVar Variation Id:
36500
dbSNP Id:
rs224208
ExAC:
16:3297181 C / T
gnomAD v2:
16-3297181-C-T
gnomAD v3:
16-3247181-C-T
gnomAD v4:
16-3247181-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3247181C>T , CM000678.2:g.3247181C>T | GRCh38 |
| NC_000016.9:g.3297181C>T , CM000678.1:g.3297181C>T | GRCh37 |
| NC_000016.8:g.3237182C>T | NCBI36 |
| NG_007871.1:g.14447G>A , LRG_190:g.14447G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219596.6:c.1422G>A MANE Select | ENSP00000219596.1:p.Glu474= | |
| ENST00000219596.5:c.1422G>A | ENSP00000219596.1:p.Glu474= | |
| ENST00000339854.8:c.882G>A | ENSP00000339639.4:p.Glu294= | |
| ENST00000536379.5:c.789G>A | ENSP00000445079.1:p.Glu263= | |
| ENST00000536980.5:c.789G>A | ENSP00000444178.1:p.Glu263= | |
| ENST00000537682.5:c.1422G>A | ENSP00000438611.1:p.Glu474= | |
| ENST00000538326.5:c.*47G>A | ENSP00000437486.1:n.*47G>A | |
| ENST00000539145.5:c.343G>A | ENSP00000444471.1:n.343G>A | |
| ENST00000539154.1:n.787G>A | ||
| ENST00000541159.5:c.789G>A | ENSP00000438711.1:p.Glu263= | |
| ENST00000542898.5:c.1515G>A | ENSP00000444615.1:p.Glu505= | |
| ENST00000570511.5:c.976G>A | ENSP00000458312.1:n.976G>A | |
| ENST00000572244.5:c.278-634G>A | ENSP00000461186.1:n.278-634G>A | |
| ENST00000574583.5:c.343G>A | ENSP00000460269.1:n.343G>A | |
| ENST00000576315.5:c.343G>A | ENSP00000460551.1:n.343G>A | |
| ENST00000621655.1:c.789G>A | ENSP00000481436.1:p.Glu263= | |
| NM_000243.2:c.1422G>A , LRG_190t1:c.1422G>A | NP_000234.1:p.Glu474= | |
| NM_001198536.1:c.789G>A | NP_001185465.1:p.Glu263= | |
| XM_017023236.2:c.1419G>A | XP_016878725.1:p.Glu473= | |
| XR_001751903.1:n.1611G>A | ||
| NM_000243.3:c.1422G>A MANE Select | NP_000234.1:p.Glu474= | |
| NM_001198536.2:c.789G>A | NP_001185465.2:p.Glu263= |