Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.7378685C>T , CM000686.2:g.7378685C>T | GRCh38 |
| NC_000024.9:g.7246726C>T , CM000686.1:g.7246726C>T | GRCh37 |
| NC_000024.8:g.7306726C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000528056.5:n.4355C>T | ||
| NR_028062.1:n.4355C>T |