Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78125422G>A , CM000685.2:g.78125422G>A | GRCh38 |
| NC_000023.10:g.77380919G>A , CM000685.1:g.77380919G>A | GRCh37 |
| NC_000023.9:g.77267575G>A | NCBI36 |
| NG_008862.1:g.26254G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.1210G>A MANE Select | ENSP00000362413.4:p.Glu404Lys | |
| ENST00000644362.1:c.1126G>A | ENSP00000496140.1:p.Glu376Lys | |
| ENST00000373316.4:c.1210G>A | ENSP00000362413.4:p.Glu404Lys | |
| ENST00000476531.1:n.479G>A | ||
| NM_000291.3:c.1210G>A | NP_000282.1:p.Glu404Lys | |
| NM_000291.4:c.1210G>A MANE Select | NP_000282.1:p.Glu404Lys |