Canonical Allele Identifier:
CA1458504895
Gene:
Linked Data
dbSNP Id:
rs1720489143
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54228570C>A , CM000666.2:g.54228570C>A | GRCh38 |
| NC_000004.11:g.55094737C>A , CM000666.1:g.55094737C>A | GRCh37 |
| NC_000004.10:g.54789494C>A | NCBI36 |
| NG_009250.1:g.4474C>A , LRG_309:g.4474C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507166.5:c.1018-46355C>A | ENSP00000423325.1:n.1018-46355C>A |