Linked Data
ClinVar Variation Id:
1551899
ClinVar RCV Id:
RCV002196880
dbSNP Id:
rs2124448316
MyVariant Identifiers:
chr1:g.43394923G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929252G>A , CM000663.2:g.42929252G>A | GRCh38 |
| NC_000001.10:g.43394923G>A , CM000663.1:g.43394923G>A | GRCh37 |
| NC_000001.9:g.43167510G>A | NCBI36 |
| NG_008232.1:g.34925C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.930C>T MANE Select | ENSP00000416293.2:p.Thr310= | |
| ENST00000674545.1:n.248C>T | ||
| ENST00000674765.1:c.930C>T | ENSP00000501811.1:p.Thr310= | |
| ENST00000675112.1:n.1231C>T | ||
| ENST00000676254.1:n.1379C>T | ||
| ENST00000426263.7:c.930C>T | ENSP00000416293.2:p.Thr310= | |
| ENST00000439722.2:c.809C>T | ENSP00000395521.2:n.809C>T | |
| ENST00000475162.3:c.415+1374C>T | ||
| ENST00000630287.2:c.*245C>T | ENSP00000486694.1:n.*245C>T | |
| NM_006516.2:c.930C>T | NP_006507.2:p.Thr310= | |
| NM_006516.3:c.930C>T | NP_006507.2:p.Thr310= | |
| NM_006516.4:c.930C>T MANE Select | NP_006507.2:p.Thr310= |