Canonical Allele Identifier:
CA1458504701
Gene:
Linked Data
dbSNP Id:
rs1720476523
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54228341C>T , CM000666.2:g.54228341C>T | GRCh38 |
| NC_000004.11:g.55094508C>T , CM000666.1:g.55094508C>T | GRCh37 |
| NC_000004.10:g.54789265C>T | NCBI36 |
| NG_009250.1:g.4245C>T , LRG_309:g.4245C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507166.5:c.1018-46584C>T | ENSP00000423325.1:n.1018-46584C>T |