Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124749507T= , CM000672.2:g.124749507T= | GRCh38 |
| NC_000010.10:g.126438076T= , CM000672.1:g.126438076T= | GRCh37 |
| NC_000010.9:g.126428066T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494792.1:c.628+10879A= | ||
| ENST00000495711.2:c.187-1021A= |