Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186860685C>T , CM000665.2:g.186860685C>T | GRCh38 |
| NC_000003.11:g.186578474C>T , CM000665.1:g.186578474C>T | GRCh37 |
| NC_000003.10:g.188061168C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046662.2:n.136+548G>A |