Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52676316C>A , CM000674.2:g.52676316C>A | GRCh38 |
| NC_000012.11:g.53070100C>A , CM000674.1:g.53070100C>A | GRCh37 |
| NC_000012.10:g.51356367C>A | NCBI36 |
| NG_008364.1:g.9092G>T | |
| NG_008364.2:g.9092G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1434G>T MANE Select | ENSP00000252244.3:p.Glu478Asp | |
| ENST00000548765.1:n.508G>T | ||
| NM_006121.3:c.1434G>T | NP_006112.3:p.Glu478Asp | |
| NM_006121.4:c.1434G>T MANE Select | NP_006112.3:p.Glu478Asp |