Canonical Allele Identifier:
CA632429678
Gene:
Linked Data
dbSNP Id:
rs1555721009
gnomAD v2:
19-20328793-G-A
gnomAD v3:
19-20217984-G-A
gnomAD v4:
19-20217984-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.20217984G>A , CM000681.2:g.20217984G>A | GRCh38 |
| NC_000019.9:g.20328793G>A , CM000681.1:g.20328793G>A | GRCh37 |
| NC_000019.8:g.20189793G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_936388.1:n.619-668C>T | ||
| XR_936389.1:n.502-668C>T | ||
| XR_936390.1:n.511-668C>T | ||
| XR_936391.1:n.514-668C>T | ||
| XR_936392.1:n.514-668C>T | ||
| XR_936394.1:n.41-750G>A | ||
| XR_001754063.2:n.1506-668C>T | ||
| XR_001754064.2:n.138-668C>T | ||
| XR_001754066.1:n.3912-668C>T | ||
| XR_001754067.1:n.3912-668C>T | ||
| XR_001754068.1:n.3912-668C>T | ||
| XR_936394.2:n.41-750G>A | ||
| XR_936406.2:n.1411-668C>T |