Linked Data
ClinVar Variation Id:
187786
dbSNP Id:
rs200203460
ExAC:
11:72013356 G / A
gnomAD v2:
11-72013356-G-A
gnomAD v4:
11-72302312-G-A
COSMIC:
COSM3721274
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72302312G>A , CM000673.2:g.72302312G>A | GRCh38 |
| NC_000011.9:g.72013356G>A , CM000673.1:g.72013356G>A | GRCh37 |
| NC_000011.8:g.71691004G>A | NCBI36 |
| NG_042130.1:g.137373C>T | |
| NG_042130.2:g.137373C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000535990.6:c.*849C>T | ENSP00000443822.2:n.*849C>T | |
| ENST00000695924.1:n.1230C>T | ||
| ENST00000695925.1:n.1230C>T | ||
| ENST00000294053.9:c.1249C>T MANE Plus Clinical | ENSP00000294053.3:p.Arg417Ter | |
| ENST00000535477.6:c.*584C>T | ENSP00000440423.2:n.*584C>T | |
| ENST00000538039.6:c.1159C>T MANE Select | ENSP00000441518.1:p.Arg387Ter | |
| ENST00000543042.6:c.1213-348C>T | ENSP00000439746.2:n.1213-348C>T | |
| ENST00000642187.1:c.667C>T | ENSP00000494594.1:n.667C>T | |
| ENST00000642288.1:c.646C>T | ENSP00000495167.1:p.Arg216Ter | |
| ENST00000645105.1:n.577C>T | ||
| ENST00000645650.1:n.503C>T | ||
| ENST00000646359.1:n.337C>T | ||
| ENST00000294053.7:c.1249C>T | ENSP00000294053.3:p.Arg417Ter | |
| ENST00000340729.9:c.1072C>T | ENSP00000340385.5:p.Arg358Ter | |
| ENST00000437826.6:c.1114C>T | ENSP00000407296.2:p.Arg372Ter | |
| ENST00000535477.5:c.1159C>T | ENSP00000440423.1:p.Arg387Ter | |
| ENST00000535990.5:c.1264C>T | ENSP00000443822.1:p.Arg422Ter | |
| ENST00000538021.5:c.176C>T | ENSP00000445180.2:p.Ala59Val | |
| ENST00000538039.5:c.1159C>T | ENSP00000441518.1:p.Arg387Ter | |
| ENST00000543042.5:c.646C>T | ENSP00000439746.1:p.Arg216Ter | |
| ENST00000544382.5:n.582C>T | ||
| NM_001258392.1:c.1159C>T | NP_001245321.1:p.Arg387Ter | |
| NM_001258392.2:c.1159C>T | NP_001245321.1:p.Arg387Ter | |
| NM_001258393.1:c.1072C>T | NP_001245322.1:p.Arg358Ter | |
| NM_001258393.2:c.1072C>T | NP_001245322.1:p.Arg358Ter | |
| NM_001258394.1:c.1114C>T | NP_001245323.1:p.Arg372Ter | |
| NM_001258394.2:c.1114C>T | NP_001245323.1:p.Arg372Ter | |
| NM_030813.4:c.1249C>T | NP_110440.1:p.Arg417Ter | |
| NM_030813.5:c.1249C>T | NP_110440.1:p.Arg417Ter | |
| XM_005274320.1:c.1162C>T | XP_005274377.1:p.Arg388Ter | |
| XM_011545288.1:c.1213-348C>T | XP_011543590.1:n.1213-348C>T | |
| XR_950283.1:n.1728-300G>A | ||
| NM_001258392.3:c.1159C>T MANE Select | NP_001245321.1:p.Arg387Ter | |
| NM_001258393.3:c.1072C>T | NP_001245322.1:p.Arg358Ter | |
| NM_030813.6:c.1249C>T MANE Plus Clinical | NP_110440.1:p.Arg417Ter | |
| NM_001258394.3:c.1114C>T | NP_001245323.1:p.Arg372Ter |