Canonical Allele Identifier:
CA1458504905
Gene:
Linked Data
dbSNP Id:
rs1720489875
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54228584T>C , CM000666.2:g.54228584T>C | GRCh38 |
| NC_000004.11:g.55094751T>C , CM000666.1:g.55094751T>C | GRCh37 |
| NC_000004.10:g.54789508T>C | NCBI36 |
| NG_009250.1:g.4488T>C , LRG_309:g.4488T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507166.5:c.1018-46341T>C | ENSP00000423325.1:n.1018-46341T>C |