Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100421875C>T , CM000674.2:g.100421875C>T | GRCh38 |
| NC_000012.11:g.100815653C>T , CM000674.1:g.100815653C>T | GRCh37 |
| NC_000012.10:g.99339784C>T | NCBI36 |
| NG_021175.1:g.69797C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139319.3:c.*1716C>T MANE Select | NP_647480.1:n.*1716C>T |
| ENST00000323346.10:c.*1716C>T MANE Select | ENSP00000316909.4:n.*1716C>T |
| NM_001145288.1:c.*1716C>T | NP_001138760.1:n.*1716C>T |
| NM_001145288.2:c.*1716C>T | NP_001138760.1:n.*1716C>T |
| NM_139319.2:c.*1716C>T | NP_647480.1:n.*1716C>T |
| ENST00000323346.9:c.*1716C>T | ENSP00000316909.4:n.*1716C>T |