Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10982292G>T , CM000668.2:g.10982292G>T | GRCh38 |
| NC_000006.11:g.10982525G>T , CM000668.1:g.10982525G>T | GRCh37 |
| NC_000006.10:g.11090511G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354666.4:c.*1489C>A MANE Select | ENSP00000346693.3:n.*1489C>A | |
| ENST00000354666.3:c.*1489C>A | ENSP00000346693.3:n.*1489C>A | |
| NM_017770.3:c.*1489C>A | NP_060240.3:n.*1489C>A | |
| XM_011514716.1:c.*1489C>A | XP_011513018.1:n.*1489C>A | |
| XM_011514717.1:c.*1489C>A | XP_011513019.1:n.*1489C>A | |
| XM_011514716.3:c.*1489C>A | XP_011513018.1:n.*1489C>A | |
| NM_017770.4:c.*1489C>A MANE Select | NP_060240.3:n.*1489C>A |