Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110831126G>A , CM000672.2:g.110831126G>A | GRCh38 |
| NC_000010.10:g.112590884G>A , CM000672.1:g.112590884G>A | GRCh37 |
| NC_000010.9:g.112580874G>A | NCBI36 |
| NG_021177.1:g.191730G>A , LRG_382:g.191730G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001134363.3:c.3517G>A MANE Select | NP_001127835.2:p.Glu1173Lys |
| ENST00000369519.4:c.3517G>A MANE Select | ENSP00000358532.3:p.Glu1173Lys |
| NM_001134363.2:c.3517G>A | NP_001127835.2:p.Glu1173Lys |
| ENST00000369519.3:c.3517G>A | ENSP00000358532.3:p.Glu1173Lys |
| ENST00000471172.1:n.93G>A | |
| ENST00000480343.2:n.150G>A | |
| XM_011539697.1:c.3133G>A | XP_011537999.1:p.Glu1045Lys |
| XM_017016103.2:c.3352G>A | XP_016871592.1:p.Glu1118Lys |
| XM_017016104.2:c.3133G>A | XP_016871593.1:p.Glu1045Lys |