Canonical Allele Identifier:
CA2774907871
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30911405T>C , CM000669.2:g.30911405T>C | GRCh38 |
| NC_000007.13:g.30951020T>C , CM000669.1:g.30951020T>C | GRCh37 |
| NC_000007.12:g.30917545T>C | NCBI36 |
| NG_007475.2:g.63012T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509504.2:c.622-588T>C |