Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6722527G= , CM000681.2:g.6722527G= | GRCh38 |
| NC_000019.9:g.6722538G= , CM000681.1:g.6722538G= | GRCh37 |
| NC_000019.8:g.6673538G= | NCBI36 |
| NG_009557.1:g.3125C= , LRG_27:g.3125C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000600744.1:c.-50+914C= | ENSP00000472044.1:n.-50+914C= |