Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3256873C= , CM000666.2:g.3256873C= | GRCh38 |
| NC_000004.11:g.3258600C= , CM000666.1:g.3258600C= | GRCh37 |
| NC_000004.10:g.3228398C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505599.5:c.729+1016C= | ENSP00000425405.1:n.729+1016C= | |
| ENST00000510580.1:c.765+980C= | ENSP00000420966.1:n.765+980C= | |
| XM_011513464.1:c.729+1016C= | XP_011511766.1:n.729+1016C= | |
| XR_924950.1:n.753+1016C= |