Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3060651C>T , CM000666.2:g.3060651C>T | GRCh38 |
| NC_000004.11:g.3062378C>T , CM000666.1:g.3062378C>T | GRCh37 |
| NC_000004.10:g.3032176C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647962.1:n.825-1825C>T | ||
| ENST00000649900.1:n.503+18406C>T | ||
| ENST00000680239.1:c.5+18406C>T | ENSP00000506169.1:n.5+18406C>T | |
| ENST00000680360.1:c.5+18406C>T | ENSP00000505014.1:n.5+18406C>T | |
| ENST00000680956.1:c.5+18406C>T | ENSP00000506029.1:n.5+18406C>T | |
| ENST00000681528.1:c.5+18406C>T | ENSP00000506116.1:n.5+18406C>T |