Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6011170G>C , CM000672.2:g.6011170G>C | GRCh38 |
| NC_000010.10:g.6053133G>C , CM000672.1:g.6053133G>C | GRCh37 |
| NC_000010.9:g.6093139G>C | NCBI36 |
| NG_007403.1:g.56140C>G , LRG_73:g.56140C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379959.8:c.*1702C>G MANE Select | ENSP00000369293.3:n.*1702C>G | |
| ENST00000649218.1:n.2336C>G | ||
| ENST00000379959.7:c.*1702C>G | ENSP00000369293.3:n.*1702C>G | |
| NM_000417.2:c.*1702C>G , LRG_73t1:c.*1702C>G | NP_000408.1:n.*1702C>G | |
| NM_001308242.1:c.*1702C>G | NP_001295171.1:n.*1702C>G | |
| NM_001308243.1:c.*1702C>G | NP_001295172.1:n.*1702C>G | |
| NM_000417.3:c.*1702C>G MANE Select | NP_000408.1:n.*1702C>G | |
| NM_001308242.2:c.*1702C>G | NP_001295171.1:n.*1702C>G | |
| NM_001308243.2:c.*1702C>G | NP_001295172.1:n.*1702C>G |