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