Linked Data
ClinVar Variation Id:
2218
ClinVar RCV Id:
RCV000002302
RCV000002303
RCV000132159
RCV000213079
RCV000435817
RCV000627746
RCV000763092
dbSNP Id:
rs5030820
ExAC:
3:10191506 C / T
gnomAD v2:
3-10191506-C-T
gnomAD v3:
3-10149822-C-T
gnomAD v4:
3-10149822-C-T
COSMIC:
COSM14311
CIViC:
CA020450
PCER:
P-CER:CA020450/193300
PubMed:
PMID:7660122
PMID:7784063
PMID:7987306
PMID:8270255
PMID:8592333
PMID:8956040
PMID:9156047
PMID:10900011
PMID:12000816
PMID:14722919
PMID:15300849
PMID:17102069
PMID:18836774
PMID:19602254
PMID:22799452
PMID:23512077
PMID:25119015
PMID:25157968
PMID:25952756
PMID:26812297
PMID:26822237
PMID:27439424
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149822C>T , CM000665.2:g.10149822C>T | GRCh38 |
| NC_000003.11:g.10191506C>T , CM000665.1:g.10191506C>T | GRCh37 |
| NC_000003.10:g.10166506C>T | NCBI36 |
| NG_008212.3:g.13188C>T , LRG_322:g.13188C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*176C>T | ENSP00000512434.1:n.*176C>T | |
| ENST00000696143.1:c.635C>T | ENSP00000512435.1:n.635C>T | |
| ENST00000696153.1:c.610C>T | ENSP00000512444.1:p.Arg204Trp | |
| ENST00000256474.3:c.499C>T MANE Select | ENSP00000256474.3:p.Arg167Trp | |
| ENST00000256474.2:c.499C>T | ENSP00000256474.2:p.Arg167Trp | |
| ENST00000345392.2:c.376C>T | ENSP00000344757.2:p.Arg126Trp | |
| ENST00000477538.1:n.635C>T | ||
| NM_000551.3:c.499C>T , LRG_322t1:c.499C>T | NP_000542.1:p.Arg167Trp | |
| NM_198156.2:c.376C>T | NP_937799.1:p.Arg126Trp | |
| NM_001354723.1:c.*53C>T | NP_001341652.1:n.*53C>T | |
| NM_000551.4:c.499C>T MANE Select | NP_000542.1:p.Arg167Trp | |
| NM_001354723.2:c.*53C>T | NP_001341652.1:n.*53C>T | |
| NM_198156.3:c.376C>T | NP_937799.1:p.Arg126Trp |