Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15640853C>A , CM000681.2:g.15640853C>A | GRCh38 |
| NC_000019.9:g.15751663C>A , CM000681.1:g.15751663C>A | GRCh37 |
| NC_000019.8:g.15612663C>A | NCBI36 |
| NG_007964.1:g.4957C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620621.4:c.344-6199C>A | ENSP00000478605.1:n.344-6199C>A |