Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.126377573A= , CM000668.2:g.126377573A= | GRCh38 |
| NC_000006.11:g.126698719A= , CM000668.1:g.126698719A= | GRCh37 |
| NC_000006.10:g.126740412A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_104462.1:n.725+31255A= | |
| NR_104462.2:n.399+31255A= | |
| ENST00000651326.1:n.2418-70874T= | |
| ENST00000652383.1:n.631-66816T= |