Canonical Allele Identifier:
CA2580575396
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52227015A>C , CM000665.2:g.52227015A>C | GRCh38 |
| NC_000003.11:g.52261031A>C , CM000665.1:g.52261031A>C | GRCh37 |
| NC_000003.10:g.52236071A>C | NCBI36 |
| NG_033933.1:g.4149T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478201.1:c.114-1380T>G | ||
| ENST00000494383.1:c.463+2646T>G |