Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7379653A>T , CM000686.2:g.7379653A>T | GRCh38 |
| NC_000024.9:g.7247694A>T , CM000686.1:g.7247694A>T | GRCh37 |
| NC_000024.8:g.7307694A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_028062.1:n.5323A>T | |
| ENST00000528056.5:n.5323A>T |