Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186680587G= , CM000663.2:g.186680587G= | GRCh38 |
| NC_000001.10:g.186649719G= , CM000663.1:g.186649719G= | GRCh37 |
| NC_000001.9:g.184916342G= | NCBI36 |
| NG_028206.2:g.4841C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000680451.1:c.-114+117C= | ENSP00000506242.1:n.-114+117C= |