Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1085368A>G , CM000673.2:g.1085368A>G | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002457.3:c.2219+45A>G | NP_002448.3:n.2219+45A>G |
| NM_002457.4:c.2219+45A>G | NP_002448.4:n.2219+45A>G |
| ENST00000361558.7:n.2246+45A>G | |
| ENST00000675028.1:c.2219+45A>G | ENSP00000502432.1:n.2219+45A>G |