Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21741710G>A , CM000680.2:g.21741710G>A | GRCh38 |
| NC_000018.9:g.19321671G>A , CM000680.1:g.19321671G>A | GRCh37 |
| NC_000018.8:g.17575669G>A | NCBI36 |
| NG_033272.2:g.41754G>A , LRG_759:g.41754G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020774.4:c.127G>A MANE Select | NP_065825.1:p.Glu43Lys |
| ENST00000261537.7:c.127G>A MANE Select | ENSP00000261537.6:p.Glu43Lys |
| NM_020774.3:c.127G>A , LRG_759t1:c.127G>A | NP_065825.1:p.Glu43Lys |
| ENST00000261537.6:c.127G>A | ENSP00000261537.6:p.Glu43Lys |
| ENST00000578646.5:n.168-24062G>A | |
| XM_017025874.1:c.127G>A | XP_016881363.1:p.Glu43Lys |
| XM_017025875.1:c.127G>A | XP_016881364.1:p.Glu43Lys |
| XR_935234.1:n.918G>A | |
| XR_935235.1:n.918G>A |