Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65964371A>G , CM000674.2:g.65964371A>G | GRCh38 |
| NC_000012.11:g.66358151A>G , CM000674.1:g.66358151A>G | GRCh37 |
| NC_000012.10:g.64644418A>G | NCBI36 |
| NG_016296.1:g.144912A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403681.7:c.*1079A>G MANE Select | ENSP00000384026.2:n.*1079A>G | |
| ENST00000403681.6:c.*1079A>G | ENSP00000384026.2:n.*1079A>G | |
| NM_003483.4:c.*1079A>G | NP_003474.1:n.*1079A>G | |
| NM_003483.6:c.*1079A>G MANE Select | NP_003474.1:n.*1079A>G |