Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22978446C>T , CM000676.2:g.22978446C>T | GRCh38 |
| NC_000014.8:g.23447655C>T , CM000676.1:g.23447655C>T | GRCh37 |
| NC_000014.7:g.22517495C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032876.6:c.1007-1G>A MANE Select | NP_116265.1:n.1007-1G>A |
| ENST00000262713.7:c.1007-1G>A MANE Select | ENSP00000262713.2:n.1007-1G>A |
| NM_032876.5:c.1007-1G>A | NP_116265.1:n.1007-1G>A |
| ENST00000262713.6:c.1007-1G>A | ENSP00000262713.2:n.1007-1G>A |
| ENST00000361265.8:c.1007-1G>A | ENSP00000354491.4:n.1007-1G>A |
| ENST00000555074.1:c.50+3763G>A |