Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2455549G>A , CM000678.2:g.2455549G>A | GRCh38 |
| NC_000016.9:g.2505550G>A , CM000678.1:g.2505550G>A | GRCh37 |
| NC_000016.8:g.2445551G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001761.3:c.1870G>A MANE Select | NP_001752.2:p.Glu624Lys |
| ENST00000397066.9:c.1870G>A MANE Select | ENSP00000380256.4:p.Glu624Lys |
| NM_001323538.1:c.946G>A | NP_001310467.1:p.Glu316Lys |
| NM_001323538.2:c.946G>A | NP_001310467.1:p.Glu316Lys |
| NM_001761.2:c.1870G>A | NP_001752.2:p.Glu624Lys |
| ENST00000293968.11:c.*1583G>A | ENSP00000293968.7:n.*1583G>A |
| ENST00000397066.8:c.1870G>A | ENSP00000380256.4:p.Glu624Lys |
| XR_933004.1:n.545+1285C>T |