Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20454911C= , CM000676.2:g.20454911C= | GRCh38 |
| NC_000014.8:g.20923070C= , CM000676.1:g.20923070C= | GRCh37 |
| NC_000014.7:g.19992910C= | NCBI36 |
| NG_008718.1:g.4781C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.8:c.-228G= | ENSP00000206542.4:n.-228G= | |
| ENST00000556252.1:n.143G= | ||
| ENST00000556439.1:n.179G= | ||
| NM_017807.3:c.-228G= | NP_060277.1:n.-228G= | |
| XM_011536930.1:c.-289G= | XP_011535232.1:n.-289G= |