Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3060500C= , CM000666.2:g.3060500C= | GRCh38 |
| NC_000004.11:g.3062227C= , CM000666.1:g.3062227C= | GRCh37 |
| NC_000004.10:g.3032025C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647962.1:n.825-1976C= | ||
| ENST00000649900.1:n.503+18255C= | ||
| ENST00000680239.1:c.5+18255C= | ENSP00000506169.1:n.5+18255C= | |
| ENST00000680360.1:c.5+18255C= | ENSP00000505014.1:n.5+18255C= | |
| ENST00000680956.1:c.5+18255C= | ENSP00000506029.1:n.5+18255C= | |
| ENST00000681528.1:c.5+18255C= | ENSP00000506116.1:n.5+18255C= |