Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48969795C>T , CM000681.2:g.48969795C>T | GRCh38 |
| NC_000019.9:g.49473052C>T , CM000681.1:g.49473052C>T | GRCh37 |
| NC_000019.8:g.54164864C>T | NCBI36 |
| NG_012923.1:g.28559G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002103.5:c.1870G>A MANE Select | NP_002094.2:p.Glu624Lys |
| ENST00000323798.8:c.1870G>A MANE Select | ENSP00000317904.3:p.Glu624Lys |
| NM_001161587.1:c.1678G>A | NP_001155059.1:p.Glu560Lys |
| NM_001161587.2:c.1678G>A | NP_001155059.1:p.Glu560Lys |
| NM_002103.4:c.1870G>A | NP_002094.2:p.Glu624Lys |
| NR_027763.1:n.1929G>A | |
| NR_027763.2:n.1885G>A | |
| ENST00000263276.6:c.1678G>A | ENSP00000263276.6:p.Glu560Lys |
| ENST00000323798.7:c.1870G>A | ENSP00000317904.3:p.Glu624Lys |