Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45370684G= , CM000681.2:g.45370684G= | GRCh38 |
| NC_000019.9:g.45873942G= , CM000681.1:g.45873942G= | GRCh37 |
| NC_000019.8:g.50565782G= | NCBI36 |
| NG_007067.2:g.4904C= , LRG_461:g.4904C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000391941.6:c.-519C= | ENSP00000375805.2:n.-519C= |