Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43128775G>T , CM000672.2:g.43128775G>T | GRCh38 |
| NC_000010.10:g.43624223G>T , CM000672.1:g.43624223G>T | GRCh37 |
| NC_000010.9:g.42944229G>T | NCBI36 |
| NG_007489.1:g.56707G>T , LRG_518:g.56707G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.*2021G>T | ENSP00000480088.2:n.*2021G>T | |
| ENST00000683007.1:n.4814G>T | ||
| ENST00000355710.8:c.*506G>T MANE Select | ENSP00000347942.3:n.*506G>T | |
| ENST00000355710.7:c.*506G>T | ENSP00000347942.3:n.*506G>T | |
| ENST00000615310.4:c.*1200G>T | ENSP00000480088.1:n.*1200G>T | |
| NM_020975.4:c.*506G>T , LRG_518t1:c.*506G>T | NP_066124.1:n.*506G>T | |
| XM_011540027.1:c.*16+490G>T | XP_011538329.1:n.*16+490G>T | |
| NM_020975.5:c.*506G>T | NP_066124.1:n.*506G>T | |
| NM_020975.6:c.*506G>T MANE Select | NP_066124.1:n.*506G>T |