Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.56447878G>C , CM000670.2:g.56447878G>C | GRCh38 |
| NC_000008.10:g.57360437G>C , CM000670.1:g.57360437G>C | GRCh37 |
| NC_000008.9:g.57522991G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_125813.1:n.694+1378G>C |