Canonical Allele Identifier:
CA847116169
Community Standard Title: NC_000008.11:g.126889758G>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.126889758G>C , CM000670.2:g.126889758G>C | GRCh38 |
| NC_000008.10:g.127902003G>C , CM000670.1:g.127902003G>C | GRCh37 |
| NC_000008.9:g.127971185G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001746076.2:n.1300+11968G>C |