Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39896394C>G , CM000663.2:g.39896394C>G | GRCh38 |
| NC_000001.10:g.40362066C>G , CM000663.1:g.40362066C>G | GRCh37 |
| NC_000001.9:g.40134653C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001033081.3:c.*978G>C MANE Select | NP_001028253.1:n.*978G>C |
| ENST00000372816.3:c.*978G>C MANE Select | ENSP00000361903.2:n.*978G>C |
| NM_001033081.2:c.*978G>C | NP_001028253.1:n.*978G>C |
| NM_001033082.2:c.*978G>C | NP_001028254.2:n.*978G>C |
| NM_001033082.3:c.*978G>C | NP_001028254.2:n.*978G>C |
| ENST00000397332.2:c.*978G>C | ENSP00000380494.2:n.*978G>C |
| ENST00000397332.3:c.*978G>C | ENSP00000380494.2:n.*978G>C |