Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.2355527C>T , CM000668.2:g.2355527C>T | GRCh38 |
| NC_000006.11:g.2355761C>T , CM000668.1:g.2355761C>T | GRCh37 |
| NC_000006.10:g.2300760C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046229.1:n.402+26195C>T |