Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52517698G>T , CM000674.2:g.52517698G>T | GRCh38 |
| NC_000012.11:g.52911482G>T , CM000674.1:g.52911482G>T | GRCh37 |
| NC_000012.10:g.51197749G>T | NCBI36 |
| NG_008297.1:g.7762C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.984C>A MANE Select | NP_000415.2:p.Asp328Glu |
| ENST00000252242.9:c.984C>A MANE Select | ENSP00000252242.4:p.Asp328Glu |
| NM_000424.3:c.984C>A | NP_000415.2:p.Asp328Glu |
| ENST00000252242.8:c.984C>A | ENSP00000252242.4:p.Asp328Glu |
| ENST00000547890.5:n.113C>A | |
| ENST00000548409.5:c.106C>A | |
| ENST00000549511.5:n.191C>A | |
| ENST00000551013.1:n.622C>A | |
| ENST00000551188.5:c.427C>A | |
| ENST00000552629.5:n.1082C>A |