Canonical Allele Identifier:
CA12407987
Gene:
Linked Data
dbSNP Id:
rs11964561
gnomAD v2:
6-8169800-G-A
gnomAD v3:
6-8169567-G-A
gnomAD v4:
6-8169567-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.8169567G>A , CM000668.2:g.8169567G>A | GRCh38 |
| NC_000006.11:g.8169800G>A , CM000668.1:g.8169800G>A | GRCh37 |
| NC_000006.10:g.8114799G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_926440.1:n.82+11307G>A | ||
| XR_926441.1:n.189+1647G>A | ||
| XR_926442.1:n.82+11307G>A | ||
| XR_926443.1:n.82+11307G>A | ||
| XR_001743950.1:n.179+1647G>A | ||
| XR_926440.2:n.74+11307G>A | ||
| XR_926441.2:n.179+1647G>A | ||
| XR_926443.2:n.83+11307G>A |