Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27597169T= , CM000670.2:g.27597169T= | GRCh38 |
| NC_000008.10:g.27454686T= , CM000670.1:g.27454686T= | GRCh37 |
| NC_000008.9:g.27510603T= | NCBI36 |
| NG_027845.1:g.22642A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001831.4:c.*1072A= (CLU) MANE Select | NP_001822.3:n.*1072A= |
| ENST00000316403.15:c.*1072A= (CLU) MANE Select | ENSP00000315130.10:n.*1072A= |
| NM_001831.3:c.*1072A= (CLU) | NP_001822.3:n.*1072A= |
| NR_038335.1:n.2743A= (CLU) | |
| NR_038335.2:n.2677A= (CLU) | |
| NR_045494.1:n.2602A= (CLU) | |
| ENST00000316403.14:c.*1072A= (CLU) | ENSP00000315130.10:n.*1072A= |
| XR_001745491.1:n.2030T= (EPHX2) | |
| XR_949609.1:n.3292T= | |
| XR_949610.1:n.2605T= | |
| XR_949611.1:n.3251T= |