Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47905119C= , CM000674.2:g.47905119C= | GRCh38 |
| NC_000012.11:g.48298902C= , CM000674.1:g.48298902C= | GRCh37 |
| NC_000012.10:g.46585169C= | NCBI36 |
| NG_008731.1:g.4913G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000395324.6:c.-83-22345G= | ENSP00000378734.2:n.-83-22345G= |