Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44891079T= , CM000681.2:g.44891079T= | GRCh38 |
| NC_000019.9:g.45394336T= , CM000681.1:g.45394336T= | GRCh37 |
| NC_000019.8:g.50086176T= | NCBI36 |
| NG_029149.1:g.49944T= | |
| NG_042854.1:g.4860T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000589253.1:c.-9-328T= | ENSP00000465611.1:n.-9-328T= |