Linked Data
ClinVar Variation Id:
1037511
ClinVar RCV Id:
RCV001340675
dbSNP Id:
rs1677132126
COSMIC:
COSM677394
MyVariant Identifiers:
chr1:g.193172942G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193203812G>T , CM000663.2:g.193203812G>T | GRCh38 |
| NC_000001.10:g.193172942G>T , CM000663.1:g.193172942G>T | GRCh37 |
| NC_000001.9:g.191439565G>T | NCBI36 |
| NG_012691.1:g.86855G>T , LRG_507:g.86855G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.990G>T MANE Select | ENSP00000356405.4:p.Arg330= | |
| ENST00000635846.1:c.747G>T | ENSP00000490035.1:p.Arg249= | |
| ENST00000643006.1:c.1058G>T | ENSP00000496633.1:p.Gly353Val | |
| ENST00000648071.1:c.*966G>T | ENSP00000497513.1:n.*966G>T | |
| ENST00000649613.1:n.240G>T | ||
| ENST00000649895.1:n.1208G>T | ||
| ENST00000650197.1:c.990G>T | ENSP00000496929.1:p.Arg330= | |
| ENST00000367435.3:c.990G>T | ENSP00000356405.3:p.Arg330= | |
| NM_024529.4:c.990G>T , LRG_507t1:c.990G>T | NP_078805.3:p.Arg330= | |
| NM_024529.5:c.990G>T MANE Select | NP_078805.3:p.Arg330= |