Linked Data
ClinVar Variation Id:
299036
ClinVar RCV Id:
RCV000288564
dbSNP Id:
rs79134213
gnomAD v2:
10-124216653-C-A
gnomAD v3:
10-122457137-C-A
gnomAD v4:
10-122457137-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122457137C>A , CM000672.2:g.122457137C>A | GRCh38 |
| NC_000010.10:g.124216653C>A , CM000672.1:g.124216653C>A | GRCh37 |
| NC_000010.9:g.124206643C>A | NCBI36 |
| NG_011554.1:g.613C>A | |
| NG_011725.1:g.7475C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528446.1:c.*204C>A MANE Select | ENSP00000436682.1:n.*204C>A | |
| NM_001099667.1:c.*204C>A | NP_001093137.1:n.*204C>A | |
| XR_946382.1:n.1827+1358G>T | ||
| XR_946383.1:n.1827+1358G>T | ||
| XR_946384.1:n.1576+1358G>T | ||
| XR_946385.1:n.1827+1358G>T | ||
| NM_001099667.2:c.*204C>A | NP_001093137.1:n.*204C>A | |
| XR_946382.2:n.1855+1358G>T | ||
| XR_946383.2:n.1855+1358G>T | ||
| XR_946384.2:n.1580+1358G>T | ||
| XR_946385.2:n.1855+1358G>T | ||
| NM_001099667.3:c.*204C>A MANE Select | NP_001093137.1:n.*204C>A |