Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3256868A>G , CM000666.2:g.3256868A>G | GRCh38 |
| NC_000004.11:g.3258595A>G , CM000666.1:g.3258595A>G | GRCh37 |
| NC_000004.10:g.3228393A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505599.5:c.729+1011A>G | ENSP00000425405.1:n.729+1011A>G | |
| ENST00000510580.1:c.765+975A>G | ENSP00000420966.1:n.765+975A>G | |
| XM_011513464.1:c.729+1011A>G | XP_011511766.1:n.729+1011A>G | |
| XR_924950.1:n.753+1011A>G |