Linked Data
ClinVar Variation Id:
319112
dbSNP Id:
rs150730718
gnomAD v2:
16-3297090-C-A
gnomAD v3:
16-3247090-C-A
gnomAD v4:
16-3247090-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3247090C>A , CM000678.2:g.3247090C>A | GRCh38 |
| NC_000016.9:g.3297090C>A , CM000678.1:g.3297090C>A | GRCh37 |
| NC_000016.8:g.3237091C>A | NCBI36 |
| NG_007871.1:g.14538G>T , LRG_190:g.14538G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219596.6:c.1513G>T MANE Select | ENSP00000219596.1:p.Asp505Tyr | |
| ENST00000219596.5:c.1513G>T | ENSP00000219596.1:p.Asp505Tyr | |
| ENST00000339854.8:c.973G>T | ENSP00000339639.4:p.Asp325Tyr | |
| ENST00000536379.5:c.880G>T | ENSP00000445079.1:p.Asp294Tyr | |
| ENST00000536980.5:c.880G>T | ENSP00000444178.1:p.Asp294Tyr | |
| ENST00000537682.5:c.1513G>T | ENSP00000438611.1:p.Asp505Tyr | |
| ENST00000538326.5:c.*138G>T | ENSP00000437486.1:n.*138G>T | |
| ENST00000539145.5:c.434G>T | ENSP00000444471.1:n.434G>T | |
| ENST00000539154.1:n.878G>T | ||
| ENST00000541159.5:c.880G>T | ENSP00000438711.1:p.Asp294Tyr | |
| ENST00000542898.5:c.1606G>T | ENSP00000444615.1:p.Asp536Tyr | |
| ENST00000570511.5:c.1067G>T | ENSP00000458312.1:n.1067G>T | |
| ENST00000572244.5:c.278-543G>T | ENSP00000461186.1:n.278-543G>T | |
| ENST00000574583.5:c.434G>T | ENSP00000460269.1:n.434G>T | |
| ENST00000576315.5:c.434G>T | ENSP00000460551.1:n.434G>T | |
| ENST00000621655.1:c.880G>T | ENSP00000481436.1:p.Asp294Tyr | |
| NM_000243.2:c.1513G>T , LRG_190t1:c.1513G>T | NP_000234.1:p.Asp505Tyr | |
| NM_001198536.1:c.880G>T | NP_001185465.1:p.Asp294Tyr | |
| XM_017023236.2:c.1510G>T | XP_016878725.1:p.Asp504Tyr | |
| XR_001751903.1:n.1702G>T | ||
| NM_000243.3:c.1513G>T MANE Select | NP_000234.1:p.Asp505Tyr | |
| NM_001198536.2:c.880G>T | NP_001185465.2:p.Asp294Tyr |