Canonical Allele Identifier:
CA1458504745
Gene:
Linked Data
dbSNP Id:
rs1720479539
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54228405C>G , CM000666.2:g.54228405C>G | GRCh38 |
| NC_000004.11:g.55094572C>G , CM000666.1:g.55094572C>G | GRCh37 |
| NC_000004.10:g.54789329C>G | NCBI36 |
| NG_009250.1:g.4309C>G , LRG_309:g.4309C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507166.5:c.1018-46520C>G | ENSP00000423325.1:n.1018-46520C>G |