Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76346148G= , CM000676.2:g.76346148G= | GRCh38 |
| NC_000014.8:g.76812491G= , CM000676.1:g.76812491G= | GRCh37 |
| NC_000014.7:g.75882244G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000512784.5:c.2+35232G= | ENSP00000424992.1:n.2+35232G= |
| ENST00000512784.6:c.2+35232G= | ENSP00000424992.2:n.2+35232G= |