Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89915950G= , CM000678.2:g.89915950G= | GRCh38 |
| NC_000016.9:g.89982358G= , CM000678.1:g.89982358G= | GRCh37 |
| NC_000016.8:g.88509859G= | NCBI36 |
| NG_012026.1:g.3072G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000555427.1:c.-581+810G= | ENSP00000451760.1:n.-581+810G= |
| ENST00000639847.1:c.-581+810G= | ENSP00000492011.1:n.-581+810G= |
| XR_933899.1:n.1967G= |