Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104953350T>C , CM000670.2:g.104953350T>C | GRCh38 |
| NC_000008.10:g.105965578T>C , CM000670.1:g.105965578T>C | GRCh37 |
| NC_000008.9:g.106034754T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518180.1:n.197-38274T>C |