Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32978543G>T , CM000665.2:g.32978543G>T | GRCh38 |
| NC_000003.11:g.33020035G>T , CM000665.1:g.33020035G>T | GRCh37 |
| NC_000003.10:g.32995039G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001393580.1:c.1735-16922C>A | NP_001380509.1:n.1735-16922C>A |