Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711471G= , CM000677.2:g.44711471G= | GRCh38 |
| NC_000015.9:g.45003669G= , CM000677.1:g.45003669G= | GRCh37 |
| NC_000015.8:g.42790961G= | NCBI36 |
| NG_012920.1:g.4985G= | |
| NG_012920.2:g.4995G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695792.1:n.83+31G= |