Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493516C= , CM000676.2:g.74493516C= | GRCh38 |
| NC_000014.8:g.74960219C= , CM000676.1:g.74960219C= | GRCh37 |
| NC_000014.7:g.74029972C= | NCBI36 |
| NG_007117.1:g.4866G= | |
| NG_033074.1:g.4797C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-64+54G= | ENSP00000450887.1:n.-64+54G= | |
| ENST00000556009.5:c.147+515G= |