Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3056082A>G , CM000666.2:g.3056082A>G | GRCh38 |
| NC_000004.11:g.3057809A>G , CM000666.1:g.3057809A>G | GRCh37 |
| NC_000004.10:g.3027607A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000647962.1:n.825-6394A>G | |
| ENST00000649900.1:n.503+13837A>G | |
| ENST00000680239.1:c.5+13837A>G | ENSP00000506169.1:n.5+13837A>G |
| ENST00000680360.1:c.5+13837A>G | ENSP00000505014.1:n.5+13837A>G |
| ENST00000680956.1:c.5+13837A>G | ENSP00000506029.1:n.5+13837A>G |
| ENST00000681528.1:c.5+13837A>G | ENSP00000506116.1:n.5+13837A>G |