Canonical Allele Identifier:
CA83529776
Community Standard Title: NC_000003.12:g.130850343C>T
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.130850343C>T , CM000665.2:g.130850343C>T | GRCh38 |
| NC_000003.11:g.130569187C>T , CM000665.1:g.130569187C>T | GRCh37 |
| NC_000003.10:g.132051877C>T | NCBI36 |
| NG_007379.2:g.4819C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001740492.1:n.1024-1344G>A |