Canonical Allele Identifier:
CA134548284
Gene:
Linked Data
dbSNP Id:
rs546169242
gnomAD v2:
6-8169943-T-G
gnomAD v3:
6-8169710-T-G
gnomAD v4:
6-8169710-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.8169710T>G , CM000668.2:g.8169710T>G | GRCh38 |
| NC_000006.11:g.8169943T>G , CM000668.1:g.8169943T>G | GRCh37 |
| NC_000006.10:g.8114942T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926440.1:n.82+11450T>G | ||
| XR_926441.1:n.189+1790T>G | ||
| XR_926442.1:n.82+11450T>G | ||
| XR_926443.1:n.82+11450T>G | ||
| XR_001743950.1:n.179+1790T>G | ||
| XR_926440.2:n.74+11450T>G | ||
| XR_926441.2:n.179+1790T>G | ||
| XR_926443.2:n.83+11450T>G |