Linked Data
ClinVar Variation Id:
542806
dbSNP Id:
rs200669192
ExAC:
16:136821 G / A
gnomAD v2:
16-136821-G-A
gnomAD v3:
16-86822-G-A
gnomAD v4:
16-86822-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86822G>A , CM000678.2:g.86822G>A | GRCh38 |
| NC_000016.9:g.136821G>A , CM000678.1:g.136821G>A | GRCh37 |
| NC_000016.8:g.76821G>A | NCBI36 |
| NG_029669.1:g.56878C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000611875.5:c.1593C>T MANE Select | ENSP00000478273.1:p.Tyr531= | |
| ENST00000399953.7:c.1518C>T | ENSP00000382834.4:p.Tyr506= | |
| ENST00000610509.1:n.2438C>T | ||
| ENST00000611875.4:c.1593C>T | ENSP00000478273.1:p.Tyr531= | |
| ENST00000620134.4:c.1593C>T | ENSP00000483814.1:p.Tyr531= | |
| ENST00000621703.4:c.*1178C>T | ENSP00000477801.1:n.*1178C>T | |
| ENST00000622194.4:c.*1229C>T | ENSP00000478045.1:n.*1229C>T | |
| NM_001039476.2:c.1056C>T | NP_001034565.1:p.Tyr352= | |
| NM_001077350.2:c.1593C>T | NP_001070818.1:p.Tyr531= | |
| NM_001243247.1:c.1359C>T | NP_001230176.1:p.Tyr453= | |
| NM_001243248.1:c.1518C>T | NP_001230177.1:p.Tyr506= | |
| NM_001243249.1:c.1518C>T | NP_001230178.1:p.Tyr506= | |
| XM_011522668.1:c.1632C>T | XP_011520970.1:p.Tyr544= | |
| XM_011522669.1:c.1593C>T | XP_011520971.1:p.Tyr531= | |
| XM_011522670.1:c.1593C>T | XP_011520972.1:p.Tyr531= | |
| XM_011522671.1:c.1557C>T | XP_011520973.1:p.Tyr519= | |
| XM_011522672.1:c.1518C>T | XP_011520974.1:p.Tyr506= | |
| XM_011522673.1:c.1518C>T | XP_011520975.1:p.Tyr506= | |
| XM_011522674.1:c.1518C>T | XP_011520976.1:p.Tyr506= | |
| XM_011522675.1:c.1359C>T | XP_011520977.1:p.Tyr453= | |
| XM_011522676.1:c.1359C>T | XP_011520978.1:p.Tyr453= | |
| XM_011522677.1:c.1359C>T | XP_011520979.1:p.Tyr453= | |
| XM_011522678.1:c.1056C>T | XP_011520980.1:p.Tyr352= | |
| XM_011522679.1:c.1056C>T | XP_011520981.1:p.Tyr352= | |
| XM_011522680.1:c.1056C>T | XP_011520982.1:p.Tyr352= | |
| XM_011522681.1:c.1056C>T | XP_011520983.1:p.Tyr352= | |
| NM_001077350.3:c.1593C>T MANE Select | NP_001070818.1:p.Tyr531= | |
| NM_001039476.3:c.1056C>T | NP_001034565.1:p.Tyr352= | |
| NM_001243247.2:c.1359C>T | NP_001230176.1:p.Tyr453= | |
| NM_001243248.2:c.1518C>T | NP_001230177.1:p.Tyr506= | |
| NM_001243249.2:c.1518C>T | NP_001230178.1:p.Tyr506= |