Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73743328A>T , CM000666.2:g.73743328A>T | GRCh38 |
| NC_000004.11:g.74609045A>T , CM000666.1:g.74609045A>T | GRCh37 |
| NC_000004.10:g.74827909A>T | NCBI36 |
| NG_029889.1:g.7823A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000584.4:c.*864A>T MANE Select | NP_000575.1:n.*864A>T |
| ENST00000307407.8:c.*864A>T MANE Select | ENSP00000306512.3:n.*864A>T |
| NM_000584.3:c.*864A>T | NP_000575.1:n.*864A>T |
| NM_001354840.3:c.*1292A>T | NP_001341769.1:n.*1292A>T |
| ENST00000307407.7:c.*864A>T | ENSP00000306512.3:n.*864A>T |
| ENST00000696131.1:c.*1368A>T | ENSP00000512424.1:n.*1368A>T |
| ENST00000696132.1:c.*1122A>T | ENSP00000512425.1:n.*1122A>T |