Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49621979G>A , CM000676.2:g.49621979G>A | GRCh38 |
| NC_000014.8:g.50088697G>A , CM000676.1:g.50088697G>A | GRCh37 |
| NC_000014.7:g.49158447G>A | NCBI36 |
| NG_008920.1:g.6209G>A | |
| NG_033054.1:g.3653C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002408.4:c.711G>A MANE Select | NP_002399.1:p.Lys237= |
| ENST00000305386.4:c.711G>A MANE Select | ENSP00000307423.2:p.Lys237= |
| NM_002408.3:c.711G>A | NP_002399.1:p.Lys237= |
| ENST00000305386.3:c.711G>A | ENSP00000307423.2:p.Lys237= |