Canonical Allele Identifier:
CA784842267
Gene:
Linked Data
dbSNP Id:
rs1200359354
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105542526G>C , CM000666.2:g.105542526G>C | GRCh38 |
| NC_000004.11:g.106463683G>C , CM000666.1:g.106463683G>C | GRCh37 |
| NC_000004.10:g.106683132G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939038.1:n.479C>G | ||
| XR_939039.1:n.639C>G | ||
| XR_939040.1:n.296-1050C>G | ||
| XR_001741410.1:n.494C>G | ||
| XR_001741411.1:n.970C>G | ||
| XR_001741412.1:n.449+45C>G | ||
| XR_001741413.1:n.494C>G | ||
| XR_001741414.1:n.449+45C>G | ||
| XR_939038.2:n.494C>G | ||
| XR_939040.2:n.311-1050C>G |