Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130380588A>G , CM000669.2:g.130380588A>G | GRCh38 |
| NC_000007.13:g.130020429A>G , CM000669.1:g.130020429A>G | GRCh37 |
| NC_000007.12:g.129807665A>G | NCBI36 |
| NG_042276.1:g.5218A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.65+3A>G MANE Select | NP_001859.1:n.65+3A>G |
| ENST00000011292.8:c.65+3A>G MANE Select | ENSP00000011292.3:n.65+3A>G |
| NM_001868.3:c.65+3A>G | NP_001859.1:n.65+3A>G |
| ENST00000011292.7:c.65+3A>G | ENSP00000011292.3:n.65+3A>G |
| ENST00000481342.5:c.-200+179A>G | ENSP00000420218.1:n.-200+179A>G |
| ENST00000491460.5:n.92+3A>G | |
| ENST00000604896.5:c.92+3A>G | ENSP00000475021.1:n.92+3A>G |