Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52676316C>T , CM000674.2:g.52676316C>T | GRCh38 |
| NC_000012.11:g.53070100C>T , CM000674.1:g.53070100C>T | GRCh37 |
| NC_000012.10:g.51356367C>T | NCBI36 |
| NG_008364.1:g.9092G>A | |
| NG_008364.2:g.9092G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006121.4:c.1434G>A MANE Select | NP_006112.3:p.Glu478= |
| ENST00000252244.3:c.1434G>A MANE Select | ENSP00000252244.3:p.Glu478= |
| NM_006121.3:c.1434G>A | NP_006112.3:p.Glu478= |
| ENST00000548765.1:n.508G>A |