Linked Data
ClinVar Variation Id:
428795
dbSNP Id:
rs5030822
gnomAD v4:
3-10149856-T-C
COSMIC:
COSM1651695
CIViC:
CA351756245
PubMed:
PMID:7987306
PMID:8707293
PMID:8956040
PMID:10567493
PMID:11058902
PMID:12114495
PMID:16314641
PMID:17024664
PMID:18836774
PMID:19009041
PCER:
P-CER:CA351756245/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149856T>C , CM000665.2:g.10149856T>C | GRCh38 |
| NC_000003.11:g.10191540T>C , CM000665.1:g.10191540T>C | GRCh37 |
| NC_000003.10:g.10166540T>C | NCBI36 |
| NG_008212.3:g.13222T>C , LRG_322:g.13222T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*210T>C | ENSP00000512434.1:n.*210T>C | |
| ENST00000696143.1:c.669T>C | ENSP00000512435.1:n.669T>C | |
| ENST00000696153.1:c.644T>C | ENSP00000512444.1:p.Leu215Pro | |
| ENST00000256474.3:c.533T>C MANE Select | ENSP00000256474.3:p.Leu178Pro | |
| ENST00000256474.2:c.533T>C | ENSP00000256474.2:p.Leu178Pro | |
| ENST00000345392.2:c.410T>C | ENSP00000344757.2:p.Leu137Pro | |
| ENST00000477538.1:n.669T>C | ||
| NM_000551.3:c.533T>C , LRG_322t1:c.533T>C | NP_000542.1:p.Leu178Pro | |
| NM_198156.2:c.410T>C | NP_937799.1:p.Leu137Pro | |
| NM_001354723.1:c.*87T>C | NP_001341652.1:n.*87T>C | |
| NM_000551.4:c.533T>C MANE Select | NP_000542.1:p.Leu178Pro | |
| NM_001354723.2:c.*87T>C | NP_001341652.1:n.*87T>C | |
| NM_198156.3:c.410T>C | NP_937799.1:p.Leu137Pro |