Linked Data
ClinVar Variation Id:
2159178
ClinVar RCV Id:
RCV003072681
dbSNP Id:
rs1643460979
gnomAD v4:
1-42929261-C-T
MyVariant Identifiers:
chr1:g.43394932C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929261C>T , CM000663.2:g.42929261C>T | GRCh38 |
| NC_000001.10:g.43394932C>T , CM000663.1:g.43394932C>T | GRCh37 |
| NC_000001.9:g.43167519C>T | NCBI36 |
| NG_008232.1:g.34916G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.921G>A MANE Select | ENSP00000416293.2:p.Val307= | |
| ENST00000674545.1:n.239G>A | ||
| ENST00000674765.1:c.921G>A | ENSP00000501811.1:p.Val307= | |
| ENST00000675112.1:n.1222G>A | ||
| ENST00000676254.1:n.1370G>A | ||
| ENST00000426263.7:c.921G>A | ENSP00000416293.2:p.Val307= | |
| ENST00000439722.2:c.800G>A | ENSP00000395521.2:n.800G>A | |
| ENST00000475162.3:c.415+1365G>A | ||
| ENST00000630287.2:c.*236G>A | ENSP00000486694.1:n.*236G>A | |
| NM_006516.2:c.921G>A | NP_006507.2:p.Val307= | |
| NM_006516.3:c.921G>A | NP_006507.2:p.Val307= | |
| NM_006516.4:c.921G>A MANE Select | NP_006507.2:p.Val307= |