Linked Data
ClinVar Variation Id:
384149
dbSNP Id:
rs766845531
ExAC:
11:6638248 G / A
gnomAD v2:
11-6638248-G-A
gnomAD v3:
11-6617017-G-A
gnomAD v4:
11-6617017-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617017G>A , CM000673.2:g.6617017G>A | GRCh38 |
| NC_000011.9:g.6638248G>A , CM000673.1:g.6638248G>A | GRCh37 |
| NC_000011.8:g.6594824G>A | NCBI36 |
| NG_008653.1:g.7445C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.531C>T | ENSP00000507321.1:p.Asp177= | |
| ENST00000299427.12:c.645C>T MANE Select | ENSP00000299427.6:p.Asp215= | |
| ENST00000436873.7:c.312+284C>T | ||
| ENST00000524788.2:n.1804C>T | ||
| ENST00000524903.2:n.1920C>T | ||
| ENST00000528807.2:n.301C>T | ||
| ENST00000530040.2:n.479+342C>T | ||
| ENST00000533371.6:c.-85C>T | ENSP00000437066.1:n.-85C>T | |
| ENST00000534644.6:n.593C>T | ||
| ENST00000642892.1:c.-85C>T | ENSP00000494165.1:n.-85C>T | |
| ENST00000643439.1:c.*385C>T | ENSP00000495849.1:n.*385C>T | |
| ENST00000643479.1:n.674C>T | ||
| ENST00000643516.1:c.395+284C>T | ||
| ENST00000644151.1:n.2084C>T | ||
| ENST00000644218.1:c.645C>T | ENSP00000493574.1:p.Asp215= | |
| ENST00000644683.1:c.*98C>T | ENSP00000494085.1:n.*98C>T | |
| ENST00000644810.1:c.366C>T | ENSP00000495895.1:p.Asp122= | |
| ENST00000644831.1:n.821C>T | ||
| ENST00000644933.1:c.-85C>T | ENSP00000496133.1:n.-85C>T | |
| ENST00000645020.1:n.1820C>T | ||
| ENST00000645285.1:c.-85C>T | ENSP00000495058.1:n.-85C>T | |
| ENST00000645331.1:n.1011C>T | ||
| ENST00000645620.1:c.-85C>T | ENSP00000493657.1:n.-85C>T | |
| ENST00000646777.1:n.821C>T | ||
| ENST00000647016.1:n.1125C>T | ||
| ENST00000647152.1:c.-85C>T | ENSP00000495893.1:n.-85C>T | |
| ENST00000647209.1:c.*514C>T | ENSP00000495558.1:n.*514C>T | |
| ENST00000647346.1:n.1665C>T | ||
| ENST00000299427.10:c.645C>T | ENSP00000299427.6:p.Asp215= | |
| ENST00000428886.6:n.814C>T | ||
| ENST00000436873.6:c.450+342C>T | ENSP00000398136.2:n.450+342C>T | |
| ENST00000524788.1:n.345C>T | ||
| ENST00000528571.5:c.*385C>T | ENSP00000434647.1:n.*385C>T | |
| ENST00000528807.1:n.195C>T | ||
| ENST00000533371.5:c.-85C>T | ENSP00000437066.1:n.-85C>T | |
| ENST00000534644.5:n.630C>T | ||
| ENST00000611494.4:c.645C>T | ENSP00000484546.1:p.Asp215= | |
| NM_000391.3:c.645C>T | NP_000382.3:p.Asp215= | |
| NM_000391.4:c.645C>T MANE Select | NP_000382.3:p.Asp215= |