Canonical Allele Identifier:
CA306408506
Gene:
Linked Data
dbSNP Id:
rs912452279
gnomAD v2:
19-20328966-T-A
gnomAD v3:
19-20218157-T-A
gnomAD v4:
19-20218157-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.20218157T>A , CM000681.2:g.20218157T>A | GRCh38 |
| NC_000019.9:g.20328966T>A , CM000681.1:g.20328966T>A | GRCh37 |
| NC_000019.8:g.20189966T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_936388.1:n.619-841A>T | ||
| XR_936389.1:n.502-841A>T | ||
| XR_936390.1:n.511-841A>T | ||
| XR_936391.1:n.514-841A>T | ||
| XR_936392.1:n.514-841A>T | ||
| XR_936394.1:n.41-577T>A | ||
| XR_001754063.2:n.1506-841A>T | ||
| XR_001754064.2:n.138-841A>T | ||
| XR_001754066.1:n.3912-841A>T | ||
| XR_001754067.1:n.3912-841A>T | ||
| XR_001754068.1:n.3912-841A>T | ||
| XR_936394.2:n.41-577T>A | ||
| XR_936406.2:n.1411-841A>T |