Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31008298C= , CM000668.2:g.31008298C= | GRCh38 |
| NC_000006.11:g.30976075C= , CM000668.1:g.30976075C= | GRCh37 |
| NC_000006.10:g.31084054C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001198815.1:c.-38+2165C= | NP_001185744.1:n.-38+2165C= | |
| NM_001318484.1:c.7+2165C= | NP_001305413.1:n.7+2165C= |