Canonical Allele Identifier:
CA880474295
Gene:
Linked Data
dbSNP Id:
rs1340973657
gnomAD v3:
19-20218033-C-G
gnomAD v4:
19-20218033-C-G
MyVariant Identifiers:
chr19:g.20218033C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.20218033C>G , CM000681.2:g.20218033C>G | GRCh38 |
| NC_000019.9:g.20328842C>G , CM000681.1:g.20328842C>G | GRCh37 |
| NC_000019.8:g.20189842C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_936388.1:n.619-717G>C | ||
| XR_936389.1:n.502-717G>C | ||
| XR_936390.1:n.511-717G>C | ||
| XR_936391.1:n.514-717G>C | ||
| XR_936392.1:n.514-717G>C | ||
| XR_936394.1:n.41-701C>G | ||
| XR_001754063.2:n.1506-717G>C | ||
| XR_001754064.2:n.138-717G>C | ||
| XR_001754066.1:n.3912-717G>C | ||
| XR_001754067.1:n.3912-717G>C | ||
| XR_001754068.1:n.3912-717G>C | ||
| XR_936394.2:n.41-701C>G | ||
| XR_936406.2:n.1411-717G>C |