Canonical Allele Identifier:
CA2216888462
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31090809G>A , CM000678.2:g.31090809G>A | GRCh38 |
| NC_000016.9:g.31102130G>A , CM000678.1:g.31102130G>A | GRCh37 |
| NC_000016.8:g.31009631G>A | NCBI36 |
| NG_011564.1:g.9147C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529564.1:c.283+2503C>T | ENSP00000431371.1:n.283+2503C>T | |
| ENST00000532364.1:c.173+3748C>T | ENSP00000460316.1:n.173+3748C>T | |
| ENST00000533518.5:c.407+283C>T |