Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.13090601T>C , CM000686.2:g.13090601T>C | GRCh38 |
| NC_000024.9:g.15202515T>C , CM000686.1:g.15202515T>C | GRCh37 |
| NC_000024.8:g.13711909T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000446621.1:n.556-3974T>C |