Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60649677G= , CM000676.2:g.60649677G= | GRCh38 |
| NC_000014.8:g.61116395G= , CM000676.1:g.61116395G= | GRCh37 |
| NC_000014.7:g.60186148G= | NCBI36 |
| NG_008231.1:g.4761C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553535.2:n.248+2258C= | ||
| ENST00000554986.2:c.42-3100C= | ENSP00000452700.2:n.42-3100C= | |
| ENST00000555955.3:n.1197+2258C= |