Linked Data
ClinVar Variation Id:
348581
dbSNP Id:
rs150572069
ExAC:
4:2831289 A / T
gnomAD v2:
4-2831289-A-T
gnomAD v3:
4-2829562-A-T
gnomAD v4:
4-2829562-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2829562A>T , CM000666.2:g.2829562A>T | GRCh38 |
| NC_000004.11:g.2831289A>T , CM000666.1:g.2831289A>T | GRCh37 |
| NC_000004.10:g.2801087A>T | NCBI36 |
| NG_011609.1:g.41540A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435136.8:c.740A>T | ENSP00000403231.3:p.Asp247Val | |
| ENST00000503393.8:c.656A>T MANE Select | ENSP00000422168.3:p.Asp219Val | |
| ENST00000511747.6:c.827A>T | ENSP00000424846.2:p.Asp276Val | |
| ENST00000356331.9:c.656A>T | ENSP00000348685.5:p.Asp219Val | |
| ENST00000435136.6:c.656A>T | ENSP00000403231.2:p.Asp219Val | |
| ENST00000442312.6:c.740A>T | ENSP00000388152.2:p.Asp247Val | |
| ENST00000452765.6:c.656A>T | ENSP00000409746.2:p.Asp219Val | |
| ENST00000503393.6:c.827A>T | ENSP00000422168.2:p.Asp276Val | |
| ENST00000504450.1:n.538+1888A>T | ||
| ENST00000505941.5:n.674A>T | ||
| ENST00000510204.5:n.1133A>T | ||
| ENST00000511747.5:c.656A>T | ENSP00000424846.1:p.Asp219Val | |
| ENST00000515183.5:n.394A>T | ||
| ENST00000515737.5:c.*541A>T | ENSP00000422605.1:n.*541A>T | |
| ENST00000515802.5:n.762A>T | ||
| NM_001122681.1:c.656A>T | NP_001116153.1:p.Asp219Val | |
| NM_001145855.1:c.740A>T | NP_001139327.1:p.Asp247Val | |
| NM_001145856.1:c.827A>T | NP_001139328.1:p.Asp276Val | |
| NM_003023.4:c.656A>T | NP_003014.3:p.Asp219Val | |
| XM_005247998.3:c.665A>T | XP_005248055.1:p.Asp222Val | |
| XM_005247999.3:c.656A>T | XP_005248056.1:p.Asp219Val | |
| XM_011513547.1:c.827A>T | XP_011511849.1:p.Asp276Val | |
| XM_011513548.1:c.656A>T | XP_011511850.1:p.Asp219Val | |
| XM_011513549.1:c.656A>T | XP_011511851.1:p.Asp219Val | |
| XM_011513550.1:c.656A>T | XP_011511852.1:p.Asp219Val | |
| XM_011513551.1:c.656A>T | XP_011511853.1:p.Asp219Val | |
| XM_011513552.1:c.485A>T | XP_011511854.1:p.Asp162Val | |
| XM_011513553.1:c.293A>T | XP_011511855.1:p.Asp98Val | |
| XM_011513554.1:c.586+1888A>T | XP_011511856.1:n.586+1888A>T | |
| XM_011513555.1:c.586+1888A>T | XP_011511857.1:n.586+1888A>T | |
| XM_011513556.1:c.586+1888A>T | XP_011511858.1:n.586+1888A>T | |
| XR_924990.1:n.660A>T | ||
| NM_001122681.2:c.656A>T MANE Select | NP_001116153.1:p.Asp219Val | |
| NM_001145855.2:c.740A>T | NP_001139327.1:p.Asp247Val | |
| NM_001145856.2:c.827A>T | NP_001139328.1:p.Asp276Val |