Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76371251G>A , CM000676.2:g.76371251G>A | GRCh38 |
| NC_000014.8:g.76837594G>A , CM000676.1:g.76837594G>A | GRCh37 |
| NC_000014.7:g.75907347G>A | NCBI36 |
| NG_012278.1:g.4905G>A | |
| NG_012278.2:g.4905G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512784.6:c.2+60335G>A | ENSP00000424992.2:n.2+60335G>A | |
| ENST00000505752.5:c.-467G>A | ENSP00000423004.1:n.-467G>A | |
| ENST00000512784.5:c.2+60335G>A | ENSP00000424992.1:n.2+60335G>A |