Linked Data
ClinVar Variation Id:
1558270
ClinVar RCV Id:
RCV002197673
dbSNP Id:
rs2102423250
MyVariant Identifiers:
chr1:g.186064625C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186095493C>A , CM000663.2:g.186095493C>A | GRCh38 |
| NC_000001.10:g.186064625C>A , CM000663.1:g.186064625C>A | GRCh37 |
| NC_000001.9:g.184331248C>A | NCBI36 |
| NG_011841.1:g.365943C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.10545C>A MANE Select | ENSP00000271588.4:p.Val3515= | |
| ENST00000271588.8:c.10545C>A | ENSP00000271588.4:p.Val3515= | |
| NM_031935.2:c.10545C>A | NP_114141.2:p.Val3515= | |
| XM_011510037.1:c.10260C>A | XP_011508339.1:p.Val3420= | |
| XM_011510038.1:c.10545C>A | XP_011508340.1:p.Val3515= | |
| XM_011510039.1:c.10545C>A | XP_011508341.1:p.Val3515= | |
| XM_011510038.3:c.10545C>A | XP_011508340.1:p.Val3515= | |
| XM_017002437.1:c.8568C>A | XP_016857926.1:p.Val2856= | |
| NM_031935.3:c.10545C>A MANE Select | NP_114141.2:p.Val3515= |