Linked Data
ClinVar Variation Id:
1622539
ClinVar RCV Id:
RCV002094590
dbSNP Id:
rs2124448438
gnomAD v4:
1-42929334-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929334G>A , CM000663.2:g.42929334G>A | GRCh38 |
| NC_000001.10:g.43395005G>A , CM000663.1:g.43395005G>A | GRCh37 |
| NC_000001.9:g.43167592G>A | NCBI36 |
| NG_008232.1:g.34843C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.868-20C>T MANE Select | ENSP00000416293.2:n.868-20C>T | |
| ENST00000674545.1:n.166C>T | ||
| ENST00000674765.1:c.868-20C>T | ENSP00000501811.1:n.868-20C>T | |
| ENST00000675112.1:n.1149C>T | ||
| ENST00000676254.1:n.1317-20C>T | ||
| ENST00000426263.7:c.868-20C>T | ENSP00000416293.2:n.868-20C>T | |
| ENST00000439722.2:c.747-20C>T | ENSP00000395521.2:n.747-20C>T | |
| ENST00000475162.3:c.415+1292C>T | ||
| ENST00000630287.2:c.*183-20C>T | ENSP00000486694.1:n.*183-20C>T | |
| NM_006516.2:c.868-20C>T | NP_006507.2:n.868-20C>T | |
| NM_006516.3:c.868-20C>T | NP_006507.2:n.868-20C>T | |
| NM_006516.4:c.868-20C>T MANE Select | NP_006507.2:n.868-20C>T |