Linked Data
ClinVar Variation Id:
496064
dbSNP Id:
rs5030833
ExAC:
3:10188264 T / C
COSMIC:
COSM17996
PubMed:
PMID:7553625
PMID:7987306
PMID:8956040
PMID:9829912
PMID:10567493
PMID:12202531
PMID:12624160
PMID:15300849
PMID:17906660
PMID:18580449
CIViC:
CA040847
PCER:
P-CER:CA040847/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146580T>C , CM000665.2:g.10146580T>C | GRCh38 |
| NC_000003.11:g.10188264T>C , CM000665.1:g.10188264T>C | GRCh37 |
| NC_000003.10:g.10163264T>C | NCBI36 |
| NG_008212.3:g.9946T>C , LRG_322:g.9946T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*84T>C | ENSP00000512434.1:n.*84T>C | |
| ENST00000696143.1:c.600-3207T>C | ENSP00000512435.1:n.600-3207T>C | |
| ENST00000696153.1:c.407T>C | ENSP00000512444.1:p.Phe136Ser | |
| ENST00000256474.3:c.407T>C MANE Select | ENSP00000256474.3:p.Phe136Ser | |
| ENST00000256474.2:c.407T>C | ENSP00000256474.2:p.Phe136Ser | |
| ENST00000345392.2:c.341-3207T>C | ENSP00000344757.2:n.341-3207T>C | |
| ENST00000477538.1:n.543T>C | ||
| NM_000551.3:c.407T>C , LRG_322t1:c.407T>C | NP_000542.1:p.Phe136Ser | |
| NM_198156.2:c.341-3207T>C | NP_937799.1:n.341-3207T>C | |
| XM_011534078.1:c.*84T>C | XP_011532380.1:n.*84T>C | |
| NM_001354723.1:c.*18-3207T>C | NP_001341652.1:n.*18-3207T>C | |
| NM_000551.4:c.407T>C MANE Select | NP_000542.1:p.Phe136Ser | |
| NM_001354723.2:c.*18-3207T>C | NP_001341652.1:n.*18-3207T>C | |
| NM_198156.3:c.341-3207T>C | NP_937799.1:n.341-3207T>C |