Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76968335G>A , CM000667.2:g.76968335G>A | GRCh38 |
| NC_000005.9:g.76264160G>A , CM000667.1:g.76264160G>A | GRCh37 |
| NC_000005.8:g.76299916G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274368.9:c.812-393G>A MANE Select | ENSP00000274368.4:n.812-393G>A | |
| ENST00000274368.8:c.812-393G>A | ENSP00000274368.4:n.812-393G>A | |
| ENST00000503763.1:n.227-393G>A | ||
| ENST00000514258.1:n.311+4875G>A | ||
| NM_001882.3:c.812-393G>A | NP_001873.2:n.812-393G>A | |
| XR_948235.1:n.1111+4875G>A | ||
| XR_948235.3:n.1091+4875G>A | ||
| NM_001882.4:c.812-393G>A MANE Select | NP_001873.2:n.812-393G>A |