Linked Data
ClinVar Variation Id:
527802
dbSNP Id:
rs780770024
ExAC:
16:3293872 G / A
gnomAD v2:
16-3293872-G-A
gnomAD v3:
16-3243872-G-A
gnomAD v4:
16-3243872-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243872G>A , CM000678.2:g.3243872G>A | GRCh38 |
| NC_000016.9:g.3293872G>A , CM000678.1:g.3293872G>A | GRCh37 |
| NC_000016.8:g.3233873G>A | NCBI36 |
| NG_007871.1:g.17756C>T , LRG_190:g.17756C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.901C>T | ||
| ENST00000219596.6:c.1780C>T MANE Select | ENSP00000219596.1:p.Gln594Ter | |
| ENST00000219596.5:c.1780C>T | ENSP00000219596.1:p.Gln594Ter | |
| ENST00000339854.8:c.1240C>T | ENSP00000339639.4:p.Gln414Ter | |
| ENST00000536379.5:c.1147C>T | ENSP00000445079.1:p.Gln383Ter | |
| ENST00000536980.5:c.*56C>T | ENSP00000444178.1:n.*56C>T | |
| ENST00000537682.5:c.*56C>T | ENSP00000438611.1:n.*56C>T | |
| ENST00000538326.5:c.*405C>T | ENSP00000437486.1:n.*405C>T | |
| ENST00000539145.5:c.701C>T | ENSP00000444471.1:n.701C>T | |
| ENST00000541159.5:c.1322C>T | ENSP00000438711.1:p.Ser441Leu | |
| ENST00000542898.5:c.*56C>T | ENSP00000444615.1:n.*56C>T | |
| ENST00000570511.5:c.1185C>T | ENSP00000458312.1:n.1185C>T | |
| ENST00000572244.5:c.470C>T | ENSP00000461186.1:n.470C>T | |
| ENST00000574583.5:c.552C>T | ENSP00000460269.1:n.552C>T | |
| ENST00000576315.5:c.585C>T | ENSP00000460551.1:n.585C>T | |
| ENST00000621655.1:c.1317C>T | ENSP00000481436.1:n.1317C>T | |
| NM_000243.2:c.1780C>T , LRG_190t1:c.1780C>T | NP_000234.1:p.Gln594Ter | |
| NM_001198536.1:c.1322C>T | NP_001185465.1:p.Ser441Leu | |
| XM_017023236.2:c.1777C>T | XP_016878725.1:p.Gln593Ter | |
| XR_001751903.1:n.2087C>T | ||
| NM_000243.3:c.1780C>T MANE Select | NP_000234.1:p.Gln594Ter | |
| NM_001198536.2:c.1322C>T | NP_001185465.2:p.Ser441Leu |