Linked Data
ClinVar Variation Id:
2040717
ClinVar RCV Id:
RCV002912677
MyVariant Identifiers:
chr1:g.193172972A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193203842A>G , CM000663.2:g.193203842A>G | GRCh38 |
| NC_000001.10:g.193172972A>G , CM000663.1:g.193172972A>G | GRCh37 |
| NC_000001.9:g.191439595A>G | NCBI36 |
| NG_012691.1:g.86885A>G , LRG_507:g.86885A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1020A>G MANE Select | ENSP00000356405.4:p.Val340= | |
| ENST00000635846.1:c.777A>G | ENSP00000490035.1:p.Val259= | |
| ENST00000643006.1:c.1088A>G | ENSP00000496633.1:p.Tyr363Cys | |
| ENST00000648071.1:c.*996A>G | ENSP00000497513.1:n.*996A>G | |
| ENST00000649613.1:n.270A>G | ||
| ENST00000649895.1:n.1238A>G | ||
| ENST00000650197.1:c.1020A>G | ENSP00000496929.1:p.Val340= | |
| ENST00000367435.3:c.1020A>G | ENSP00000356405.3:p.Val340= | |
| NM_024529.4:c.1020A>G , LRG_507t1:c.1020A>G | NP_078805.3:p.Val340= | |
| NM_024529.5:c.1020A>G MANE Select | NP_078805.3:p.Val340= |