Linked Data
ClinVar Variation Id:
187785
dbSNP Id:
rs144078282
ExAC:
11:72013383 T / C
gnomAD v2:
11-72013383-T-C
gnomAD v3:
11-72302339-T-C
gnomAD v4:
11-72302339-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72302339T>C , CM000673.2:g.72302339T>C | GRCh38 |
| NC_000011.9:g.72013383T>C , CM000673.1:g.72013383T>C | GRCh37 |
| NC_000011.8:g.71691031T>C | NCBI36 |
| NG_042130.1:g.137346A>G | |
| NG_042130.2:g.137346A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000535990.6:c.*822A>G | ENSP00000443822.2:n.*822A>G | |
| ENST00000695924.1:n.1203A>G | ||
| ENST00000695925.1:n.1203A>G | ||
| ENST00000294053.9:c.1222A>G MANE Plus Clinical | ENSP00000294053.3:p.Arg408Gly | |
| ENST00000535477.6:c.*557A>G | ENSP00000440423.2:n.*557A>G | |
| ENST00000538039.6:c.1132A>G MANE Select | ENSP00000441518.1:p.Arg378Gly | |
| ENST00000543042.6:c.1213-375A>G | ENSP00000439746.2:n.1213-375A>G | |
| ENST00000642187.1:c.640A>G | ENSP00000494594.1:n.640A>G | |
| ENST00000642288.1:c.619A>G | ENSP00000495167.1:p.Arg207Gly | |
| ENST00000645105.1:n.550A>G | ||
| ENST00000645650.1:n.476A>G | ||
| ENST00000646359.1:n.310A>G | ||
| ENST00000294053.7:c.1222A>G | ENSP00000294053.3:p.Arg408Gly | |
| ENST00000340729.9:c.1045A>G | ENSP00000340385.5:p.Arg349Gly | |
| ENST00000437826.6:c.1087A>G | ENSP00000407296.2:p.Arg363Gly | |
| ENST00000535477.5:c.1132A>G | ENSP00000440423.1:p.Arg378Gly | |
| ENST00000535990.5:c.1237A>G | ENSP00000443822.1:p.Arg413Gly | |
| ENST00000538021.5:c.149A>G | ENSP00000445180.2:p.Gln50Arg | |
| ENST00000538039.5:c.1132A>G | ENSP00000441518.1:p.Arg378Gly | |
| ENST00000543042.5:c.619A>G | ENSP00000439746.1:p.Arg207Gly | |
| ENST00000544382.5:n.555A>G | ||
| NM_001258392.1:c.1132A>G | NP_001245321.1:p.Arg378Gly | |
| NM_001258392.2:c.1132A>G | NP_001245321.1:p.Arg378Gly | |
| NM_001258393.1:c.1045A>G | NP_001245322.1:p.Arg349Gly | |
| NM_001258393.2:c.1045A>G | NP_001245322.1:p.Arg349Gly | |
| NM_001258394.1:c.1087A>G | NP_001245323.1:p.Arg363Gly | |
| NM_001258394.2:c.1087A>G | NP_001245323.1:p.Arg363Gly | |
| NM_030813.4:c.1222A>G | NP_110440.1:p.Arg408Gly | |
| NM_030813.5:c.1222A>G | NP_110440.1:p.Arg408Gly | |
| XM_005274320.1:c.1135A>G | XP_005274377.1:p.Arg379Gly | |
| XM_011545288.1:c.1213-375A>G | XP_011543590.1:n.1213-375A>G | |
| XR_950283.1:n.1728-273T>C | ||
| NM_001258392.3:c.1132A>G MANE Select | NP_001245321.1:p.Arg378Gly | |
| NM_001258393.3:c.1045A>G | NP_001245322.1:p.Arg349Gly | |
| NM_030813.6:c.1222A>G MANE Plus Clinical | NP_110440.1:p.Arg408Gly | |
| NM_001258394.3:c.1087A>G | NP_001245323.1:p.Arg363Gly |