Canonical Allele Identifier:
CA156111464
Community Standard Title: NC_000007.14:g.30911505G>A
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30911505G>A , CM000669.2:g.30911505G>A | GRCh38 |
| NC_000007.13:g.30951120G>A , CM000669.1:g.30951120G>A | GRCh37 |
| NC_000007.12:g.30917645G>A | NCBI36 |
| NG_007475.2:g.63112G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000509504.2:c.622-488G>A |