Linked Data
ClinVar Variation Id:
319108
dbSNP Id:
rs779572391
ExAC:
16:3293684 A / T
gnomAD v2:
16-3293684-A-T
gnomAD v3:
16-3243684-A-T
gnomAD v4:
16-3243684-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243684A>T , CM000678.2:g.3243684A>T | GRCh38 |
| NC_000016.9:g.3293684A>T , CM000678.1:g.3293684A>T | GRCh37 |
| NC_000016.8:g.3233685A>T | NCBI36 |
| NG_007871.1:g.17944T>A , LRG_190:g.17944T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.924T>A | ||
| ENST00000219596.6:c.1803T>A MANE Select | ENSP00000219596.1:p.Ile601= | |
| ENST00000219596.5:c.1803T>A | ENSP00000219596.1:p.Ile601= | |
| ENST00000339854.8:c.1263T>A | ENSP00000339639.4:p.Ile421= | |
| ENST00000536379.5:c.1170T>A | ENSP00000445079.1:p.Ile390= | |
| ENST00000536980.5:c.*79T>A | ENSP00000444178.1:n.*79T>A | |
| ENST00000537682.5:c.*79T>A | ENSP00000438611.1:n.*79T>A | |
| ENST00000538326.5:c.*428T>A | ENSP00000437486.1:n.*428T>A | |
| ENST00000539145.5:c.724T>A | ENSP00000444471.1:n.724T>A | |
| ENST00000541159.5:c.1345T>A | ENSP00000438711.1:n.1345T>A | |
| ENST00000542898.5:c.*79T>A | ENSP00000444615.1:n.*79T>A | |
| ENST00000570511.5:c.1208T>A | ENSP00000458312.1:n.1208T>A | |
| ENST00000572244.5:c.493T>A | ENSP00000461186.1:n.493T>A | |
| ENST00000574583.5:c.575T>A | ENSP00000460269.1:n.575T>A | |
| ENST00000576315.5:c.608T>A | ENSP00000460551.1:n.608T>A | |
| ENST00000621655.1:c.1340T>A | ENSP00000481436.1:n.1340T>A | |
| NM_000243.2:c.1803T>A , LRG_190t1:c.1803T>A | NP_000234.1:p.Ile601= | |
| NM_001198536.1:c.*7T>A | NP_001185465.1:n.*7T>A | |
| XM_017023236.2:c.1800T>A | XP_016878725.1:p.Ile600= | |
| XR_001751903.1:n.2110T>A | ||
| NM_000243.3:c.1803T>A MANE Select | NP_000234.1:p.Ile601= | |
| NM_001198536.2:c.*7T>A | NP_001185465.2:n.*7T>A |