Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75135044G>T , CM000676.2:g.75135044G>T | GRCh38 |
| NC_000014.8:g.75601747G>T , CM000676.1:g.75601747G>T | GRCh37 |
| NC_000014.7:g.74671500G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303575.9:c.539-38C>A MANE Select | ENSP00000303145.4:n.539-38C>A | |
| ENST00000303575.8:c.539-38C>A | ENSP00000303145.4:n.539-38C>A | |
| ENST00000555036.1:n.322-38C>A | ||
| ENST00000555873.1:c.*175-38C>A | ENSP00000450726.1:n.*175-38C>A | |
| ENST00000556969.5:n.246-38C>A | ||
| ENST00000557670.5:n.267-38C>A | ||
| NM_006827.5:c.539-38C>A | NP_006818.3:n.539-38C>A | |
| NM_006827.6:c.539-38C>A MANE Select | NP_006818.3:n.539-38C>A |