Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38244973C= , CM000681.2:g.38244973C= | GRCh38 |
| NC_000019.9:g.38735613C= , CM000681.1:g.38735613C= | GRCh37 |
| NC_000019.8:g.43427453C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000590510.5:c.-45+839C= | ENSP00000465301.1:n.-45+839C= |