Linked Data
ClinVar Variation Id:
857323
ClinVar RCV Id:
RCV001062969
dbSNP Id:
rs369069000
ExAC:
16:3293869 C / T
gnomAD v2:
16-3293869-C-T
gnomAD v3:
16-3243869-C-T
gnomAD v4:
16-3243869-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243869C>T , CM000678.2:g.3243869C>T | GRCh38 |
| NC_000016.9:g.3293869C>T , CM000678.1:g.3293869C>T | GRCh37 |
| NC_000016.8:g.3233870C>T | NCBI36 |
| NG_007871.1:g.17759G>A , LRG_190:g.17759G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.904G>A | ||
| ENST00000219596.6:c.1783G>A MANE Select | ENSP00000219596.1:p.Ala595Thr | |
| ENST00000219596.5:c.1783G>A | ENSP00000219596.1:p.Ala595Thr | |
| ENST00000339854.8:c.1243G>A | ENSP00000339639.4:p.Ala415Thr | |
| ENST00000536379.5:c.1150G>A | ENSP00000445079.1:p.Ala384Thr | |
| ENST00000536980.5:c.*59G>A | ENSP00000444178.1:n.*59G>A | |
| ENST00000537682.5:c.*59G>A | ENSP00000438611.1:n.*59G>A | |
| ENST00000538326.5:c.*408G>A | ENSP00000437486.1:n.*408G>A | |
| ENST00000539145.5:c.704G>A | ENSP00000444471.1:n.704G>A | |
| ENST00000541159.5:c.1325G>A | ENSP00000438711.1:p.Gly442Asp | |
| ENST00000542898.5:c.*59G>A | ENSP00000444615.1:n.*59G>A | |
| ENST00000570511.5:c.1188G>A | ENSP00000458312.1:n.1188G>A | |
| ENST00000572244.5:c.473G>A | ENSP00000461186.1:n.473G>A | |
| ENST00000574583.5:c.555G>A | ENSP00000460269.1:n.555G>A | |
| ENST00000576315.5:c.588G>A | ENSP00000460551.1:n.588G>A | |
| ENST00000621655.1:c.1320G>A | ENSP00000481436.1:n.1320G>A | |
| NM_000243.2:c.1783G>A , LRG_190t1:c.1783G>A | NP_000234.1:p.Ala595Thr | |
| NM_001198536.1:c.1325G>A | NP_001185465.1:p.Gly442Asp | |
| XM_017023236.2:c.1780G>A | XP_016878725.1:p.Ala594Thr | |
| XR_001751903.1:n.2090G>A | ||
| NM_000243.3:c.1783G>A MANE Select | NP_000234.1:p.Ala595Thr | |
| NM_001198536.2:c.1325G>A | NP_001185465.2:p.Gly442Asp |