Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216108009G= , CM000664.2:g.216108009G= | GRCh38 |
| NC_000002.11:g.216972732G= , CM000664.1:g.216972732G= | GRCh37 |
| NC_000002.10:g.216680977G= | NCBI36 |
| NG_029780.1:g.3713G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000392133.7:c.-347+311G= | ENSP00000375978.3:n.-347+311G= |