Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40208138C= , CM000674.2:g.40208138C= | GRCh38 |
| NC_000012.11:g.40601940C= , CM000674.1:g.40601940C= | GRCh37 |
| NC_000012.10:g.38888207C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416796.5:c.-63+11365C= | ENSP00000398726.1:n.-63+11365C= | |
| XR_944865.1:n.290+141C= | ||
| XR_944865.3:n.521+141C= |