Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6722011G= , CM000681.2:g.6722011G= | GRCh38 |
| NC_000019.9:g.6722022G= , CM000681.1:g.6722022G= | GRCh37 |
| NC_000019.8:g.6673022G= | NCBI36 |
| NG_009557.1:g.3641C= , LRG_27:g.3641C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000600744.1:c.-50+1430C= | ENSP00000472044.1:n.-50+1430C= |