Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47906551C= , CM000674.2:g.47906551C= | GRCh38 |
| NC_000012.11:g.48300334C= , CM000674.1:g.48300334C= | GRCh37 |
| NC_000012.10:g.46586601C= | NCBI36 |
| NG_008731.1:g.3481G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000395324.6:c.-83-23777G= | ENSP00000378734.2:n.-83-23777G= |