Linked Data
ClinVar Variation Id:
493169
dbSNP Id:
rs377657099
ExAC:
16:3293873 A / T
gnomAD v2:
16-3293873-A-T
gnomAD v3:
16-3243873-A-T
gnomAD v4:
16-3243873-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243873A>T , CM000678.2:g.3243873A>T | GRCh38 |
| NC_000016.9:g.3293873A>T , CM000678.1:g.3293873A>T | GRCh37 |
| NC_000016.8:g.3233874A>T | NCBI36 |
| NG_007871.1:g.17755T>A , LRG_190:g.17755T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.900T>A | ||
| ENST00000219596.6:c.1779T>A MANE Select | ENSP00000219596.1:p.Ala593= | |
| ENST00000219596.5:c.1779T>A | ENSP00000219596.1:p.Ala593= | |
| ENST00000339854.8:c.1239T>A | ENSP00000339639.4:p.Ala413= | |
| ENST00000536379.5:c.1146T>A | ENSP00000445079.1:p.Ala382= | |
| ENST00000536980.5:c.*55T>A | ENSP00000444178.1:n.*55T>A | |
| ENST00000537682.5:c.*55T>A | ENSP00000438611.1:n.*55T>A | |
| ENST00000538326.5:c.*404T>A | ENSP00000437486.1:n.*404T>A | |
| ENST00000539145.5:c.700T>A | ENSP00000444471.1:n.700T>A | |
| ENST00000541159.5:c.1321T>A | ENSP00000438711.1:p.Ser441Thr | |
| ENST00000542898.5:c.*55T>A | ENSP00000444615.1:n.*55T>A | |
| ENST00000570511.5:c.1184T>A | ENSP00000458312.1:n.1184T>A | |
| ENST00000572244.5:c.469T>A | ENSP00000461186.1:n.469T>A | |
| ENST00000574583.5:c.551T>A | ENSP00000460269.1:n.551T>A | |
| ENST00000576315.5:c.584T>A | ENSP00000460551.1:n.584T>A | |
| ENST00000621655.1:c.1316T>A | ENSP00000481436.1:n.1316T>A | |
| NM_000243.2:c.1779T>A , LRG_190t1:c.1779T>A | NP_000234.1:p.Ala593= | |
| NM_001198536.1:c.1321T>A | NP_001185465.1:p.Ser441Thr | |
| XM_017023236.2:c.1776T>A | XP_016878725.1:p.Ala592= | |
| XR_001751903.1:n.2086T>A | ||
| NM_000243.3:c.1779T>A MANE Select | NP_000234.1:p.Ala593= | |
| NM_001198536.2:c.1321T>A | NP_001185465.2:p.Ser441Thr |