Canonical Allele Identifier:
CA306408463
Gene:
Linked Data
dbSNP Id:
rs992214029
gnomAD v2:
19-20328825-A-C
gnomAD v3:
19-20218016-A-C
gnomAD v4:
19-20218016-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.20218016A>C , CM000681.2:g.20218016A>C | GRCh38 |
| NC_000019.9:g.20328825A>C , CM000681.1:g.20328825A>C | GRCh37 |
| NC_000019.8:g.20189825A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_936388.1:n.619-700T>G | ||
| XR_936389.1:n.502-700T>G | ||
| XR_936390.1:n.511-700T>G | ||
| XR_936391.1:n.514-700T>G | ||
| XR_936392.1:n.514-700T>G | ||
| XR_936394.1:n.41-718A>C | ||
| XR_001754063.2:n.1506-700T>G | ||
| XR_001754064.2:n.138-700T>G | ||
| XR_001754066.1:n.3912-700T>G | ||
| XR_001754067.1:n.3912-700T>G | ||
| XR_001754068.1:n.3912-700T>G | ||
| XR_936394.2:n.41-718A>C | ||
| XR_936406.2:n.1411-700T>G |