Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19929380C= , CM000670.2:g.19929380C= | GRCh38 |
| NC_000008.10:g.19786891C= , CM000670.1:g.19786891C= | GRCh37 |
| NC_000008.9:g.19831171C= | NCBI36 |
| NG_008855.2:g.32664C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000520959.5:c.-140-18800C= | ENSP00000428496.1:n.-140-18800C= |