Linked Data
ClinVar Variation Id:
207581
dbSNP Id:
rs763162812
ExAC:
11:6637951 T / A
gnomAD v2:
11-6637951-T-A
gnomAD v3:
11-6616720-T-A
gnomAD v4:
11-6616720-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616720T>A , CM000673.2:g.6616720T>A | GRCh38 |
| NC_000011.9:g.6637951T>A , CM000673.1:g.6637951T>A | GRCh37 |
| NC_000011.8:g.6594527T>A | NCBI36 |
| NG_008653.1:g.7742A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682424.1:c.713A>T | ENSP00000507321.1:p.Asp238Val | |
| ENST00000299427.12:c.827A>T MANE Select | ENSP00000299427.6:p.Asp276Val | |
| ENST00000436873.7:c.312+581A>T | ||
| ENST00000524788.2:n.1986A>T | ||
| ENST00000524903.2:n.2102A>T | ||
| ENST00000528807.2:n.483A>T | ||
| ENST00000530040.2:n.480-217A>T | ||
| ENST00000533371.6:c.98A>T | ENSP00000437066.1:p.Asp33Val | |
| ENST00000642892.1:c.98A>T | ENSP00000494165.1:p.Asp33Val | |
| ENST00000643439.1:c.*567A>T | ENSP00000495849.1:n.*567A>T | |
| ENST00000643479.1:n.856A>T | ||
| ENST00000643516.1:c.396-217A>T | ||
| ENST00000644151.1:n.2266A>T | ||
| ENST00000644218.1:c.827A>T | ENSP00000493574.1:p.Asp276Val | |
| ENST00000644683.1:c.*280A>T | ENSP00000494085.1:n.*280A>T | |
| ENST00000644810.1:c.548A>T | ENSP00000495895.1:p.Asp183Val | |
| ENST00000644831.1:n.1003A>T | ||
| ENST00000644933.1:c.98A>T | ENSP00000496133.1:p.Asp33Val | |
| ENST00000645020.1:n.2117A>T | ||
| ENST00000645285.1:c.98A>T | ENSP00000495058.1:p.Asp33Val | |
| ENST00000645331.1:n.1193A>T | ||
| ENST00000645620.1:c.98A>T | ENSP00000493657.1:p.Asp33Val | |
| ENST00000646777.1:n.1003A>T | ||
| ENST00000647016.1:n.1307A>T | ||
| ENST00000647152.1:c.98A>T | ENSP00000495893.1:p.Asp33Val | |
| ENST00000647209.1:c.*696A>T | ENSP00000495558.1:n.*696A>T | |
| ENST00000647346.1:n.1847A>T | ||
| ENST00000299427.10:c.827A>T | ENSP00000299427.6:p.Asp276Val | |
| ENST00000436873.6:c.451-217A>T | ENSP00000398136.2:n.451-217A>T | |
| ENST00000524788.1:n.527A>T | ||
| ENST00000528807.1:n.377A>T | ||
| ENST00000533371.5:c.98A>T | ENSP00000437066.1:p.Asp33Val | |
| ENST00000611494.4:c.827A>T | ENSP00000484546.1:p.Asp276Val | |
| NM_000391.3:c.827A>T | NP_000382.3:p.Asp276Val | |
| NM_000391.4:c.827A>T MANE Select | NP_000382.3:p.Asp276Val |