Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.113095084G>A , CM000674.2:g.113095084G>A | GRCh38 |
| NC_000012.11:g.113532889G>A , CM000674.1:g.113532889G>A | GRCh37 |
| NC_000012.10:g.112017272G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004416.3:c.1429G>A MANE Select | NP_004407.2:p.Glu477Lys |
| ENST00000548759.2:c.1429G>A MANE Select | ENSP00000510707.1:p.Glu477Lys |
| NM_004416.2:c.1429G>A | NP_004407.2:p.Glu477Lys |
| ENST00000257600.3:c.1429G>A | ENSP00000257600.3:p.Glu477Lys |
| ENST00000547730.1:n.45G>A | |
| ENST00000547974.5:n.683G>A | |
| XM_011538009.1:c.1429G>A | XP_011536311.1:p.Glu477Lys |
| XM_011538009.2:c.1429G>A | XP_011536311.1:p.Glu477Lys |