Canonical Allele Identifier:
CA2467802737
Gene:
Linked Data
dbSNP Id:
rs1307497812
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.641039A>C , CM000686.2:g.641039A>C | GRCh38 |
| NC_000024.9:g.551774A>C , CM000686.1:g.551774A>C | GRCh37 |
| NC_000024.8:g.521774A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711141.1:c.585A>C | ENSP00000518639.1:p.Arg195= | |
| ENST00000711142.1:c.585A>C | ENSP00000518640.1:p.Arg195= | |
| ENST00000711143.1:c.585A>C | ENSP00000518641.1:p.Arg195= | |
| ENST00000711145.1:c.585A>C | ENSP00000518642.1:p.Arg195= |