Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52240759G>T , CM000668.2:g.52240759G>T | GRCh38 |
| NC_000006.11:g.52105557G>T , CM000668.1:g.52105557G>T | GRCh37 |
| NC_000006.10:g.52213516G>T | NCBI36 |
| NG_031869.1:g.8742C>A , LRG_356:g.8742C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699946.1:c.34-1809C>A | ENSP00000514702.1:n.34-1809C>A | |
| ENST00000336123.5:c.34-1809C>A MANE Select | ENSP00000337432.4:n.34-1809C>A | |
| ENST00000336123.4:c.34-1809C>A | ENSP00000337432.4:n.34-1809C>A | |
| NM_052872.3:c.34-1809C>A , LRG_356t1:c.34-1809C>A | NP_443104.1:n.34-1809C>A | |
| XM_011514276.1:c.34-1809C>A | XP_011512578.1:n.34-1809C>A | |
| NM_052872.4:c.34-1809C>A MANE Select | NP_443104.1:n.34-1809C>A |