Linked Data
ClinVar Variation Id:
710793
ClinVar RCV Id:
RCV000882440
dbSNP Id:
rs751488322
gnomAD v2:
11-6638383-C-A
gnomAD v3:
11-6617152-C-A
gnomAD v4:
11-6617152-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617152C>A , CM000673.2:g.6617152C>A | GRCh38 |
| NC_000011.9:g.6638383C>A , CM000673.1:g.6638383C>A | GRCh37 |
| NC_000011.8:g.6594959C>A | NCBI36 |
| NG_008653.1:g.7310G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.396G>T | ENSP00000507321.1:p.Val132= | |
| ENST00000299427.12:c.510G>T MANE Select | ENSP00000299427.6:p.Val170= | |
| ENST00000428886.7:n.745G>T | ||
| ENST00000436873.7:c.312+149G>T | ||
| ENST00000524788.2:n.1669G>T | ||
| ENST00000524903.2:n.1785G>T | ||
| ENST00000528807.2:n.166G>T | ||
| ENST00000530040.2:n.479+207G>T | ||
| ENST00000533371.6:c.-220G>T | ENSP00000437066.1:n.-220G>T | |
| ENST00000534644.6:n.458G>T | ||
| ENST00000642892.1:c.-220G>T | ENSP00000494165.1:n.-220G>T | |
| ENST00000643439.1:c.*250G>T | ENSP00000495849.1:n.*250G>T | |
| ENST00000643479.1:n.539G>T | ||
| ENST00000643516.1:c.395+149G>T | ||
| ENST00000644151.1:n.1949G>T | ||
| ENST00000644218.1:c.510G>T | ENSP00000493574.1:p.Val170= | |
| ENST00000644683.1:c.452G>T | ENSP00000494085.1:p.Trp151Leu | |
| ENST00000644810.1:c.231G>T | ENSP00000495895.1:p.Val77= | |
| ENST00000644831.1:n.686G>T | ||
| ENST00000644933.1:c.-220G>T | ENSP00000496133.1:n.-220G>T | |
| ENST00000645020.1:n.1685G>T | ||
| ENST00000645285.1:c.-220G>T | ENSP00000495058.1:n.-220G>T | |
| ENST00000645331.1:n.876G>T | ||
| ENST00000645620.1:c.-220G>T | ENSP00000493657.1:n.-220G>T | |
| ENST00000646777.1:n.686G>T | ||
| ENST00000647016.1:n.990G>T | ||
| ENST00000647152.1:c.-220G>T | ENSP00000495893.1:n.-220G>T | |
| ENST00000647209.1:c.*379G>T | ENSP00000495558.1:n.*379G>T | |
| ENST00000647346.1:n.1530G>T | ||
| ENST00000299427.10:c.510G>T | ENSP00000299427.6:p.Val170= | |
| ENST00000428886.6:n.679G>T | ||
| ENST00000436873.6:c.450+207G>T | ENSP00000398136.2:n.450+207G>T | |
| ENST00000524788.1:n.210G>T | ||
| ENST00000528571.5:c.*250G>T | ENSP00000434647.1:n.*250G>T | |
| ENST00000528807.1:n.60G>T | ||
| ENST00000533371.5:c.-220G>T | ENSP00000437066.1:n.-220G>T | |
| ENST00000534644.5:n.495G>T | ||
| ENST00000611494.4:c.510G>T | ENSP00000484546.1:p.Val170= | |
| NM_000391.3:c.510G>T | NP_000382.3:p.Val170= | |
| NM_000391.4:c.510G>T MANE Select | NP_000382.3:p.Val170= |