Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401566G= , CM000681.2:g.1401566G= | GRCh38 |
| NC_000019.9:g.1401565G= , CM000681.1:g.1401565G= | GRCh37 |
| NC_000019.8:g.1352565G= | NCBI36 |
| NG_009785.1:g.4988C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447102.8:c.-90C= | ENSP00000403536.2:n.-90C= | |
| ENST00000447102.7:c.-90C= | ENSP00000403536.2:n.-90C= | |
| NM_000156.5:c.-90C= | NP_000147.1:n.-90C= | |
| NM_138924.2:c.-90C= | NP_620279.1:n.-90C= |