Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130384627G>A , CM000669.2:g.130384627G>A | GRCh38 |
| NC_000007.13:g.130024468G>A , CM000669.1:g.130024468G>A | GRCh37 |
| NC_000007.12:g.129811704G>A | NCBI36 |
| NG_042276.1:g.9257G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.787+1G>A MANE Select | NP_001859.1:n.787+1G>A |
| ENST00000011292.8:c.787+1G>A MANE Select | ENSP00000011292.3:n.787+1G>A |
| NM_001868.3:c.787+1G>A | NP_001859.1:n.787+1G>A |
| ENST00000011292.7:c.787+1G>A | ENSP00000011292.3:n.787+1G>A |
| ENST00000470838.1:n.188G>A | |
| ENST00000476062.5:c.523+1G>A | ENSP00000419408.1:n.523+1G>A |
| ENST00000479106.1:n.844G>A | |
| ENST00000484324.1:c.523+1G>A | ENSP00000419497.1:n.523+1G>A |
| ENST00000604896.5:c.343+1G>A | ENSP00000475021.1:n.343+1G>A |