Canonical Allele Identifier:
CA2570054519
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31090830G>T , CM000678.2:g.31090830G>T | GRCh38 |
| NC_000016.9:g.31102151G>T , CM000678.1:g.31102151G>T | GRCh37 |
| NC_000016.8:g.31009652G>T | NCBI36 |
| NG_011564.1:g.9126C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529564.1:c.283+2482C>A | ENSP00000431371.1:n.283+2482C>A | |
| ENST00000532364.1:c.173+3727C>A | ENSP00000460316.1:n.173+3727C>A | |
| ENST00000533518.5:c.407+262C>A |