Linked Data
ClinVar Variation Id:
829
ClinVar RCV Id:
RCV000000872
RCV000034389
RCV000035073
RCV000322880
RCV000579405
RCV001353725
RCV002286387
RCV003650352
dbSNP Id:
rs1801166
ExAC:
5:112175240 G / C
gnomAD v2:
5-112175240-G-C
gnomAD v3:
5-112839543-G-C
gnomAD v4:
5-112839543-G-C
COSMIC:
COSM19099
PubMed:
PMID:8834176
PMID:9724771
PMID:10737725
PMID:11001924
PMID:12173026
PMID:14578138
PMID:16134147
PMID:17119068
PMID:17920230
PMID:18199528
PMID:19029688
PMID:19474113
PMID:19701947
PMID:19888426
PMID:20301519
PMID:21995949
PMID:22703879
PMID:23159591
PMID:23576677
PMID:24728327
PMID:25333069
PMID:26314409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839543G>C , CM000667.2:g.112839543G>C | GRCh38 |
| NC_000005.9:g.112175240G>C , CM000667.1:g.112175240G>C | GRCh37 |
| NC_000005.8:g.112203139G>C | NCBI36 |
| NG_008481.4:g.152023G>C , LRG_130:g.152023G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3614G>C | ENSP00000484935.2:n.3614G>C | |
| ENST00000504915.3:c.4003G>C | ENSP00000473355.2:p.Glu1335Gln | |
| ENST00000505350.2:c.*3955G>C | ENSP00000481752.1:n.*3955G>C | |
| ENST00000507379.6:c.3895G>C | ENSP00000423224.2:p.Glu1299Gln | |
| ENST00000509732.6:c.3949G>C | ENSP00000426541.2:p.Glu1317Gln | |
| ENST00000512211.7:c.3949G>C | ENSP00000423828.3:p.Glu1317Gln | |
| ENST00000257430.9:c.3949G>C MANE Select | ENSP00000257430.4:p.Glu1317Gln | |
| ENST00000257430.8:c.3949G>C | ENSP00000257430.4:p.Glu1317Gln | |
| ENST00000502371.2:c.2302G>C | ||
| ENST00000508376.6:c.3949G>C | ENSP00000427089.2:p.Glu1317Gln | |
| ENST00000508624.5:c.*3271G>C | ENSP00000424265.1:n.*3271G>C | |
| ENST00000520401.1:c.230+10571G>C | ||
| NM_000038.5:c.3949G>C | NP_000029.2:p.Glu1317Gln | |
| NM_001127510.2:c.3949G>C | NP_001120982.1:p.Glu1317Gln | |
| NM_001127511.2:c.3895G>C | NP_001120983.2:p.Glu1299Gln | |
| NM_001354895.1:c.3949G>C | NP_001341824.1:p.Glu1317Gln | |
| NM_001354896.1:c.4003G>C | NP_001341825.1:p.Glu1335Gln | |
| NM_001354897.1:c.3979G>C | NP_001341826.1:p.Glu1327Gln | |
| NM_001354898.1:c.3874G>C | NP_001341827.1:p.Glu1292Gln | |
| NM_001354899.1:c.3865G>C | NP_001341828.1:p.Glu1289Gln | |
| NM_001354900.1:c.3826G>C | NP_001341829.1:p.Glu1276Gln | |
| NM_001354901.1:c.3772G>C | NP_001341830.1:p.Glu1258Gln | |
| NM_001354902.1:c.3676G>C | NP_001341831.1:p.Glu1226Gln | |
| NM_001354903.1:c.3646G>C | NP_001341832.1:p.Glu1216Gln | |
| NM_001354904.1:c.3571G>C | NP_001341833.1:p.Glu1191Gln | |
| NM_001354905.1:c.3469G>C | NP_001341834.1:p.Glu1157Gln | |
| NM_001354906.1:c.3100G>C | NP_001341835.1:p.Glu1034Gln | |
| NM_000038.6:c.3949G>C MANE Select | NP_000029.2:p.Glu1317Gln | |
| NM_001127510.3:c.3949G>C | NP_001120982.1:p.Glu1317Gln | |
| NM_001127511.3:c.3895G>C | NP_001120983.2:p.Glu1299Gln | |
| NM_001354895.2:c.3949G>C | NP_001341824.1:p.Glu1317Gln | |
| NM_001354896.2:c.4003G>C | NP_001341825.1:p.Glu1335Gln | |
| NM_001354897.2:c.3979G>C | NP_001341826.1:p.Glu1327Gln | |
| NM_001354898.2:c.3874G>C | NP_001341827.1:p.Glu1292Gln | |
| NM_001354899.2:c.3865G>C | NP_001341828.1:p.Glu1289Gln | |
| NM_001354900.2:c.3826G>C | NP_001341829.1:p.Glu1276Gln | |
| NM_001354901.2:c.3772G>C | NP_001341830.1:p.Glu1258Gln | |
| NM_001354902.2:c.3676G>C | NP_001341831.1:p.Glu1226Gln | |
| NM_001354903.2:c.3646G>C | NP_001341832.1:p.Glu1216Gln | |
| NM_001354904.2:c.3571G>C | NP_001341833.1:p.Glu1191Gln | |
| NM_001354905.2:c.3469G>C | NP_001341834.1:p.Glu1157Gln | |
| NM_001354906.2:c.3100G>C | NP_001341835.1:p.Glu1034Gln |