Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.71269168C= , CM000674.2:g.71269168C= | GRCh38 |
| NC_000012.11:g.71662948C= , CM000674.1:g.71662948C= | GRCh37 |
| NC_000012.10:g.69949215C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393330.6:c.-110+8183G= | ENSP00000377003.2:n.-110+8183G= | |
| ENST00000549421.1:n.206+13548G= |