Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100421661T>G , CM000674.2:g.100421661T>G | GRCh38 |
| NC_000012.11:g.100815439T>G , CM000674.1:g.100815439T>G | GRCh37 |
| NC_000012.10:g.99339570T>G | NCBI36 |
| NG_021175.1:g.69583T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139319.3:c.*1502T>G MANE Select | NP_647480.1:n.*1502T>G |
| ENST00000323346.10:c.*1502T>G MANE Select | ENSP00000316909.4:n.*1502T>G |
| NM_001145288.1:c.*1502T>G | NP_001138760.1:n.*1502T>G |
| NM_001145288.2:c.*1502T>G | NP_001138760.1:n.*1502T>G |
| NM_139319.2:c.*1502T>G | NP_647480.1:n.*1502T>G |
| ENST00000323346.9:c.*1502T>G | ENSP00000316909.4:n.*1502T>G |