Canonical Allele Identifier:
CA2269950930
Community Standard Title: NC_000017.11:g.63498888G>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63498888G>C , CM000679.2:g.63498888G>C | GRCh38 |
| NC_000017.10:g.61576249G>C , CM000679.1:g.61576249G>C | GRCh37 |
| NC_000017.9:g.58929981G>C | NCBI36 |
| NG_011648.1:g.26816G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000577647.2:c.1969+1903G>C | ENSP00000464149.1:n.1969+1903G>C |