Canonical Allele Identifier:
CA2467802695
Gene:
Linked Data
dbSNP Id:
rs138998412
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.641000C>G , CM000686.2:g.641000C>G | GRCh38 |
| NC_000024.9:g.551735C>G , CM000686.1:g.551735C>G | GRCh37 |
| NC_000024.8:g.521735C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711141.1:c.546C>G | ENSP00000518639.1:p.Gly182= | |
| ENST00000711142.1:c.546C>G | ENSP00000518640.1:p.Gly182= | |
| ENST00000711143.1:c.546C>G | ENSP00000518641.1:p.Gly182= | |
| ENST00000711145.1:c.546C>G | ENSP00000518642.1:p.Gly182= |