Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10982740T>A , CM000668.2:g.10982740T>A | GRCh38 |
| NC_000006.11:g.10982973T>A , CM000668.1:g.10982973T>A | GRCh37 |
| NC_000006.10:g.11090959T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017770.4:c.*1041A>T MANE Select | NP_060240.3:n.*1041A>T |
| ENST00000354666.4:c.*1041A>T MANE Select | ENSP00000346693.3:n.*1041A>T |
| NM_017770.3:c.*1041A>T | NP_060240.3:n.*1041A>T |
| ENST00000354666.3:c.*1041A>T | ENSP00000346693.3:n.*1041A>T |
| XM_011514716.1:c.*1041A>T | XP_011513018.1:n.*1041A>T |
| XM_011514716.3:c.*1041A>T | XP_011513018.1:n.*1041A>T |
| XM_011514717.1:c.*1041A>T | XP_011513019.1:n.*1041A>T |