Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.52027355T>C , CM000667.2:g.52027355T>C | GRCh38 |
| NC_000005.9:g.51323189T>C , CM000667.1:g.51323189T>C | GRCh37 |
| NC_000005.8:g.51358946T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_147166.1:n.115+15753T>C |