Canonical Allele Identifier:
CA13165227
Community Standard Title: NC_000010.11:g.94762608T>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762608T>C , CM000672.2:g.94762608T>C | GRCh38 |
| NC_000010.10:g.96522365T>C , CM000672.1:g.96522365T>C | GRCh37 |
| NC_000010.9:g.96512355T>C | NCBI36 |
| NG_008384.2:g.4903T>C | |
| NG_008384.3:g.4928T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000464755.1:c.932-12450T>C | ENSP00000483243.1:n.932-12450T>C |