Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41431190G= , CM000681.2:g.41431190G= | GRCh38 |
| NC_000019.9:g.41937095G= , CM000681.1:g.41937095G= | GRCh37 |
| NC_000019.8:g.46628935G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000595085.5:c.1057G= | ENSP00000471150.2:p.Ala353= |