Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.103956547C>T , CM000664.2:g.103956547C>T | GRCh38 |
| NC_000002.11:g.104573005C>T , CM000664.1:g.104573005C>T | GRCh37 |
| NC_000002.10:g.103939437C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001739621.1:n.178+82102C>T | |
| XR_001739623.1:n.178+82102C>T |