Canonical Allele Identifier:
CA1869965233
Community Standard Title: NC_000009.12:g.104928254G>A
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104928254G>A , CM000671.2:g.104928254G>A | GRCh38 |
| NC_000009.11:g.107690535G>A , CM000671.1:g.107690535G>A | GRCh37 |
| NC_000009.10:g.106730356G>A | NCBI36 |
| NG_007981.1:g.4902C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_930204.1:n.734+344G>A | |
| XR_930204.2:n.115+344G>A |