Linked Data
ClinVar Variation Id:
2232
ClinVar RCV Id:
RCV002247239
dbSNP Id:
rs28940298
ExAC:
3:10191605 C / T
gnomAD v2:
3-10191605-C-T
gnomAD v3:
3-10149921-C-T
gnomAD v4:
3-10149921-C-T
COSMIC:
COSM18024
PubMed:
PMID:8956040
PMID:9399847
PMID:10364675
PMID:11987242
PMID:12393546
PMID:12415268
PMID:12702509
PMID:12844285
PMID:14604959
PMID:14726398
PMID:15177666
PMID:15574766
PMID:15642664
PMID:16210343
PMID:17264095
PMID:17992257
PMID:18836774
PMID:19030229
PMID:19304954
PMID:21606165
PMID:21685897
PMID:21876117
PMID:21993671
PMID:22393103
PMID:23015148
PMID:24728327
PMID:25371412
PMID:25637381
CIViC:
CA020510
PCER:
P-CER:CA020510/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149921C>T , CM000665.2:g.10149921C>T | GRCh38 |
| NC_000003.11:g.10191605C>T , CM000665.1:g.10191605C>T | GRCh37 |
| NC_000003.10:g.10166605C>T | NCBI36 |
| NG_008212.3:g.13287C>T , LRG_322:g.13287C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*275C>T | ENSP00000512434.1:n.*275C>T | |
| ENST00000696143.1:c.734C>T | ENSP00000512435.1:n.734C>T | |
| ENST00000696153.1:c.709C>T | ENSP00000512444.1:p.Arg237Trp | |
| ENST00000256474.3:c.598C>T MANE Select | ENSP00000256474.3:p.Arg200Trp | |
| ENST00000256474.2:c.598C>T | ENSP00000256474.2:p.Arg200Trp | |
| ENST00000345392.2:c.475C>T | ENSP00000344757.2:p.Arg159Trp | |
| ENST00000477538.1:n.734C>T | ||
| NM_000551.3:c.598C>T , LRG_322t1:c.598C>T | NP_000542.1:p.Arg200Trp | |
| NM_198156.2:c.475C>T | NP_937799.1:p.Arg159Trp | |
| NM_001354723.1:c.*152C>T | NP_001341652.1:n.*152C>T | |
| NM_000551.4:c.598C>T MANE Select | NP_000542.1:p.Arg200Trp | |
| NM_001354723.2:c.*152C>T | NP_001341652.1:n.*152C>T | |
| NM_198156.3:c.475C>T | NP_937799.1:p.Arg159Trp |