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