Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12500193G= , CM000686.2:g.12500193G= | GRCh38 |
| NC_000024.9:g.14611987G= , CM000686.1:g.14611987G= | GRCh37 |
| NC_000024.8:g.13121995G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381172.3:n.61+7116C= |