Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1613111T>G , CM000668.2:g.1613111T>G | GRCh38 |
| NC_000006.11:g.1613346T>G , CM000668.1:g.1613346T>G | GRCh37 |
| NC_000006.10:g.1558345T>G | NCBI36 |
| NG_009368.1:g.7666T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*1004T>G MANE Select | ENSP00000493906.1:n.*1004T>G | |
| ENST00000380874.3:c.*1004T>G | ENSP00000370256.2:n.*1004T>G | |
| NM_001453.2:c.2666T>G | NP_001444.2:n.2666T>G | |
| NM_001453.3:c.*1004T>G MANE Select | NP_001444.2:n.*1004T>G |