Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76371261C= , CM000676.2:g.76371261C= | GRCh38 |
| NC_000014.8:g.76837604C= , CM000676.1:g.76837604C= | GRCh37 |
| NC_000014.7:g.75907357C= | NCBI36 |
| NG_012278.1:g.4915C= | |
| NG_012278.2:g.4915C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512784.6:c.2+60345C= | ENSP00000424992.2:n.2+60345C= | |
| ENST00000505752.5:c.-457C= | ENSP00000423004.1:n.-457C= | |
| ENST00000512784.5:c.2+60345C= | ENSP00000424992.1:n.2+60345C= |