Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43128298C>A , CM000672.2:g.43128298C>A | GRCh38 |
| NC_000010.10:g.43623746C>A , CM000672.1:g.43623746C>A | GRCh37 |
| NC_000010.9:g.42943752C>A | NCBI36 |
| NG_007489.1:g.56230C>A , LRG_518:g.56230C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020975.6:c.*29C>A MANE Select | NP_066124.1:n.*29C>A |
| ENST00000355710.8:c.*29C>A MANE Select | ENSP00000347942.3:n.*29C>A |
| NM_020975.4:c.*29C>A , LRG_518t1:c.*29C>A | NP_066124.1:n.*29C>A |
| NM_020975.5:c.*29C>A | NP_066124.1:n.*29C>A |
| ENST00000355710.7:c.*29C>A | ENSP00000347942.3:n.*29C>A |
| ENST00000615310.4:c.*723C>A | ENSP00000480088.1:n.*723C>A |
| ENST00000615310.5:c.*1544C>A | ENSP00000480088.2:n.*1544C>A |
| ENST00000683007.1:n.4337C>A | |
| XM_011540027.1:c.*16+13C>A | XP_011538329.1:n.*16+13C>A |