Canonical Allele Identifier:
CA2580730625
Community Standard Title: NC_000007.14:g.30897563T>G
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30897563T>G , CM000669.2:g.30897563T>G | GRCh38 |
| NC_000007.13:g.30937178T>G , CM000669.1:g.30937178T>G | GRCh37 |
| NC_000007.12:g.30903703T>G | NCBI36 |
| NG_007475.2:g.49170T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000509504.2:c.622-14430T>G |