Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139562127C>A , CM000685.2:g.139562127C>A | GRCh38 |
| NC_000023.10:g.138644286C>A , CM000685.1:g.138644286C>A | GRCh37 |
| NC_000023.9:g.138471952C>A | NCBI36 |
| NG_007994.1:g.36392C>A , LRG_556:g.36392C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.*56C>A MANE Select | ENSP00000218099.2:n.*56C>A | |
| ENST00000643157.1:n.1723+386C>A | ||
| ENST00000218099.6:c.*56C>A | ENSP00000218099.2:n.*56C>A | |
| NM_000133.3:c.*56C>A , LRG_556t1:c.*56C>A | NP_000124.1:n.*56C>A | |
| NM_001313913.1:c.*56C>A | NP_001300842.1:n.*56C>A | |
| XM_005262397.3:c.*56C>A | XP_005262454.1:n.*56C>A | |
| XM_005262397.4:c.*56C>A | XP_005262454.1:n.*56C>A | |
| NM_000133.4:c.*56C>A MANE Select | NP_000124.1:n.*56C>A | |
| NM_001313913.2:c.*56C>A | NP_001300842.1:n.*56C>A |