Linked Data
ClinVar Variation Id:
1694334
ClinVar RCV Id:
RCV002262056
dbSNP Id:
rs61732874
gnomAD v2:
16-3293257-C-T
gnomAD v3:
16-3243257-C-T
gnomAD v4:
16-3243257-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243257C>T , CM000678.2:g.3243257C>T | GRCh38 |
| NC_000016.9:g.3293257C>T , CM000678.1:g.3293257C>T | GRCh37 |
| NC_000016.8:g.3233258C>T | NCBI36 |
| NG_007871.1:g.18371G>A , LRG_190:g.18371G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697124.1:n.1351G>A | ||
| ENST00000219596.6:c.2230G>A MANE Select | ENSP00000219596.1:p.Ala744Thr | |
| ENST00000219596.5:c.2230G>A | ENSP00000219596.1:p.Ala744Thr | |
| ENST00000339854.8:c.1690G>A | ENSP00000339639.4:p.Ala564Thr | |
| ENST00000536379.5:c.1597G>A | ENSP00000445079.1:p.Ala533Thr | |
| ENST00000536980.5:c.*506G>A | ENSP00000444178.1:n.*506G>A | |
| ENST00000537682.5:c.*506G>A | ENSP00000438611.1:n.*506G>A | |
| ENST00000538326.5:c.*855G>A | ENSP00000437486.1:n.*855G>A | |
| ENST00000539145.5:c.1151G>A | ENSP00000444471.1:n.1151G>A | |
| ENST00000541159.5:c.1772G>A | ENSP00000438711.1:n.1772G>A | |
| ENST00000542898.5:c.*506G>A | ENSP00000444615.1:n.*506G>A | |
| ENST00000570511.5:c.1635G>A | ENSP00000458312.1:n.1635G>A | |
| ENST00000572244.5:c.920G>A | ENSP00000461186.1:n.920G>A | |
| ENST00000574583.5:c.1002G>A | ENSP00000460269.1:n.1002G>A | |
| ENST00000576315.5:c.1035G>A | ENSP00000460551.1:n.1035G>A | |
| ENST00000621655.1:c.1767G>A | ENSP00000481436.1:n.1767G>A | |
| NM_000243.2:c.2230G>A , LRG_190t1:c.2230G>A | NP_000234.1:p.Ala744Thr | |
| NM_001198536.1:c.*434G>A | NP_001185465.1:n.*434G>A | |
| XM_017023236.2:c.2227G>A | XP_016878725.1:p.Ala743Thr | |
| NM_000243.3:c.2230G>A MANE Select | NP_000234.1:p.Ala744Thr | |
| NM_001198536.2:c.*434G>A | NP_001185465.2:n.*434G>A |