Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43129204C>A , CM000672.2:g.43129204C>A | GRCh38 |
| NC_000010.10:g.43624652C>A , CM000672.1:g.43624652C>A | GRCh37 |
| NC_000010.9:g.42944658C>A | NCBI36 |
| NG_007489.1:g.57136C>A , LRG_518:g.57136C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.*2450C>A | ENSP00000480088.2:n.*2450C>A | |
| ENST00000683007.1:n.5243C>A | ||
| ENST00000355710.8:c.*935C>A MANE Select | ENSP00000347942.3:n.*935C>A | |
| ENST00000355710.7:c.*935C>A | ENSP00000347942.3:n.*935C>A | |
| ENST00000615310.4:c.*1629C>A | ENSP00000480088.1:n.*1629C>A | |
| NM_020975.4:c.*935C>A , LRG_518t1:c.*935C>A | NP_066124.1:n.*935C>A | |
| XM_011540027.1:c.*17-314C>A | XP_011538329.1:n.*17-314C>A | |
| NM_020975.5:c.*935C>A | NP_066124.1:n.*935C>A | |
| NM_020975.6:c.*935C>A MANE Select | NP_066124.1:n.*935C>A |