Linked Data
ClinVar Variation Id:
348580
ClinVar RCV Id:
RCV000380701
dbSNP Id:
rs200156713
ExAC:
4:2829400 G / A
gnomAD v2:
4-2829400-G-A
gnomAD v3:
4-2827673-G-A
gnomAD v4:
4-2827673-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2827673G>A , CM000666.2:g.2827673G>A | GRCh38 |
| NC_000004.11:g.2829400G>A , CM000666.1:g.2829400G>A | GRCh37 |
| NC_000004.10:g.2799198G>A | NCBI36 |
| NG_011609.1:g.39651G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435136.8:c.669G>A | ENSP00000403231.3:p.Glu223= | |
| ENST00000503393.8:c.585G>A MANE Select | ENSP00000422168.3:p.Glu195= | |
| ENST00000511747.6:c.756G>A | ENSP00000424846.2:p.Glu252= | |
| ENST00000356331.9:c.585G>A | ENSP00000348685.5:p.Glu195= | |
| ENST00000435136.6:c.585G>A | ENSP00000403231.2:p.Glu195= | |
| ENST00000442312.6:c.669G>A | ENSP00000388152.2:p.Glu223= | |
| ENST00000452765.6:c.585G>A | ENSP00000409746.2:p.Glu195= | |
| ENST00000503393.6:c.756G>A | ENSP00000422168.2:p.Glu252= | |
| ENST00000504450.1:n.537G>A | ||
| ENST00000505941.5:n.603G>A | ||
| ENST00000510204.5:n.1062G>A | ||
| ENST00000511747.5:c.585G>A | ENSP00000424846.1:p.Glu195= | |
| ENST00000515183.5:n.323G>A | ||
| ENST00000515737.5:c.*470G>A | ENSP00000422605.1:n.*470G>A | |
| ENST00000515802.5:n.691G>A | ||
| NM_001122681.1:c.585G>A | NP_001116153.1:p.Glu195= | |
| NM_001145855.1:c.669G>A | NP_001139327.1:p.Glu223= | |
| NM_001145856.1:c.756G>A | NP_001139328.1:p.Glu252= | |
| NM_003023.4:c.585G>A | NP_003014.3:p.Glu195= | |
| XM_005247998.3:c.594G>A | XP_005248055.1:p.Glu198= | |
| XM_005247999.3:c.585G>A | XP_005248056.1:p.Glu195= | |
| XM_011513547.1:c.756G>A | XP_011511849.1:p.Glu252= | |
| XM_011513548.1:c.585G>A | XP_011511850.1:p.Glu195= | |
| XM_011513549.1:c.585G>A | XP_011511851.1:p.Glu195= | |
| XM_011513550.1:c.585G>A | XP_011511852.1:p.Glu195= | |
| XM_011513551.1:c.585G>A | XP_011511853.1:p.Glu195= | |
| XM_011513552.1:c.414G>A | XP_011511854.1:p.Glu138= | |
| XM_011513553.1:c.222G>A | XP_011511855.1:p.Glu74= | |
| XM_011513554.1:c.585G>A | XP_011511856.1:p.Glu195= | |
| XM_011513555.1:c.585G>A | XP_011511857.1:p.Glu195= | |
| XM_011513556.1:c.585G>A | XP_011511858.1:p.Glu195= | |
| XR_924990.1:n.589G>A | ||
| NM_001122681.2:c.585G>A MANE Select | NP_001116153.1:p.Glu195= | |
| NM_001145855.2:c.669G>A | NP_001139327.1:p.Glu223= | |
| NM_001145856.2:c.756G>A | NP_001139328.1:p.Glu252= |