Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177134G>A , CM000678.2:g.177134G>A | GRCh38 |
| NC_000016.9:g.227133G>A , CM000678.1:g.227133G>A | GRCh37 |
| NC_000016.8:g.167133G>A | NCBI36 |
| NG_000006.1:g.37997G>A | |
| NG_059186.1:g.5484G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000558.5:c.300+1G>A MANE Select | NP_000549.1:n.300+1G>A |
| ENST00000320868.9:c.300+1G>A MANE Select | ENSP00000322421.5:n.300+1G>A |
| NM_000558.4:c.300+1G>A | NP_000549.1:n.300+1G>A |
| ENST00000397797.1:c.204+1G>A | ENSP00000380899.1:n.204+1G>A |
| ENST00000472694.1:n.436+1G>A | |
| ENST00000487791.1:n.270G>A |