Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53378105G>T , CM000685.2:g.53378105G>T | GRCh38 |
| NC_000023.10:g.53405026G>T , CM000685.1:g.53405026G>T | GRCh37 |
| NC_000023.9:g.53421751G>T | NCBI36 |
| NG_006988.2:g.49566C>A , LRG_773:g.49566C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.*1998C>A MANE Select | ENSP00000323421.3:n.*1998C>A | |
| ENST00000675504.1:c.*1998C>A | ENSP00000502524.1:n.*1998C>A | |
| ENST00000322213.8:c.*1998C>A | ENSP00000323421.3:n.*1998C>A | |
| ENST00000375340.10:c.*1998C>A | ENSP00000364489.7:n.*1998C>A | |
| NM_001281463.1:c.*1998C>A , LRG_773t1:c.*1998C>A | NP_001268392.1:n.*1998C>A | |
| NM_006306.3:c.*1998C>A , LRG_773t2:c.*1998C>A | NP_006297.2:n.*1998C>A | |
| NM_006306.4:c.*1998C>A MANE Select | NP_006297.2:n.*1998C>A |