Canonical Allele Identifier:
CA306408417
Gene:
Linked Data
dbSNP Id:
rs556758143
gnomAD v2:
19-20328707-C-T
gnomAD v3:
19-20217898-C-T
gnomAD v4:
19-20217898-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.20217898C>T , CM000681.2:g.20217898C>T | GRCh38 |
| NC_000019.9:g.20328707C>T , CM000681.1:g.20328707C>T | GRCh37 |
| NC_000019.8:g.20189707C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_936388.1:n.619-582G>A | ||
| XR_936389.1:n.502-582G>A | ||
| XR_936390.1:n.511-582G>A | ||
| XR_936391.1:n.514-582G>A | ||
| XR_936392.1:n.514-582G>A | ||
| XR_936394.1:n.41-836C>T | ||
| XR_001754063.2:n.1506-582G>A | ||
| XR_001754064.2:n.138-582G>A | ||
| XR_001754066.1:n.3912-582G>A | ||
| XR_001754067.1:n.3912-582G>A | ||
| XR_001754068.1:n.3912-582G>A | ||
| XR_936394.2:n.41-836C>T | ||
| XR_936406.2:n.1411-582G>A |