Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711413T= , CM000677.2:g.44711413T= | GRCh38 |
| NC_000015.9:g.45003611T= , CM000677.1:g.45003611T= | GRCh37 |
| NC_000015.8:g.42790903T= | NCBI36 |
| NG_012920.1:g.4927T= | |
| NG_012920.2:g.4937T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695792.1:n.56T= |