Linked Data
ClinVar Variation Id:
1937234
ClinVar RCV Id:
RCV002627615
dbSNP Id:
rs121908204
ExAC:
11:6638857 C / A
gnomAD v2:
11-6638857-C-A
gnomAD v3:
11-6617626-C-A
gnomAD v4:
11-6617626-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617626C>A , CM000673.2:g.6617626C>A | GRCh38 |
| NC_000011.9:g.6638857C>A , CM000673.1:g.6638857C>A | GRCh37 |
| NC_000011.8:g.6595433C>A | NCBI36 |
| NG_008653.1:g.6836G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.266G>T | ENSP00000507321.1:p.Arg89Leu | |
| ENST00000299427.12:c.380G>T MANE Select | ENSP00000299427.6:p.Arg127Leu | |
| ENST00000428886.7:n.468G>T | ||
| ENST00000436873.7:c.184G>T | ||
| ENST00000524788.2:n.1392G>T | ||
| ENST00000524903.2:n.1508G>T | ||
| ENST00000528571.6:c.*120G>T | ENSP00000434647.1:n.*120G>T | |
| ENST00000530040.2:n.409G>T | ||
| ENST00000533371.6:c.-350G>T | ENSP00000437066.1:n.-350G>T | |
| ENST00000534644.6:n.381G>T | ||
| ENST00000642892.1:c.-297G>T | ENSP00000494165.1:n.-297G>T | |
| ENST00000643439.1:c.*120G>T | ENSP00000495849.1:n.*120G>T | |
| ENST00000643479.1:n.409G>T | ||
| ENST00000643516.1:c.267G>T | ||
| ENST00000644151.1:n.1672G>T | ||
| ENST00000644218.1:c.380G>T | ENSP00000493574.1:p.Arg127Leu | |
| ENST00000644683.1:c.380G>T | ENSP00000494085.1:p.Arg127Leu | |
| ENST00000644810.1:c.230-473G>T | ENSP00000495895.1:n.230-473G>T | |
| ENST00000644831.1:n.409G>T | ||
| ENST00000644933.1:c.-350G>T | ENSP00000496133.1:n.-350G>T | |
| ENST00000645020.1:n.1408G>T | ||
| ENST00000645285.1:c.-350G>T | ENSP00000495058.1:n.-350G>T | |
| ENST00000645331.1:n.402G>T | ||
| ENST00000645620.1:c.-292G>T | ENSP00000493657.1:n.-292G>T | |
| ENST00000646777.1:n.409G>T | ||
| ENST00000647016.1:n.713G>T | ||
| ENST00000647152.1:c.-350G>T | ENSP00000495893.1:n.-350G>T | |
| ENST00000647209.1:c.*249G>T | ENSP00000495558.1:n.*249G>T | |
| ENST00000647346.1:n.1400G>T | ||
| ENST00000299427.10:c.380G>T | ENSP00000299427.6:p.Arg127Leu | |
| ENST00000428886.6:n.402G>T | ||
| ENST00000436873.6:c.380G>T | ENSP00000398136.2:p.Arg127Leu | |
| ENST00000528571.5:c.*120G>T | ENSP00000434647.1:n.*120G>T | |
| ENST00000530040.1:n.492G>T | ||
| ENST00000533371.5:c.-350G>T | ENSP00000437066.1:n.-350G>T | |
| ENST00000534644.5:n.365G>T | ||
| ENST00000611494.4:c.380G>T | ENSP00000484546.1:p.Arg127Leu | |
| NM_000391.3:c.380G>T | NP_000382.3:p.Arg127Leu | |
| NM_000391.4:c.380G>T MANE Select | NP_000382.3:p.Arg127Leu |