Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76371253A= , CM000676.2:g.76371253A= | GRCh38 |
| NC_000014.8:g.76837596A= , CM000676.1:g.76837596A= | GRCh37 |
| NC_000014.7:g.75907349A= | NCBI36 |
| NG_012278.1:g.4907A= | |
| NG_012278.2:g.4907A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512784.6:c.2+60337A= | ENSP00000424992.2:n.2+60337A= | |
| ENST00000505752.5:c.-465A= | ENSP00000423004.1:n.-465A= | |
| ENST00000512784.5:c.2+60337A= | ENSP00000424992.1:n.2+60337A= |