Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151399571C>T , CM000663.2:g.151399571C>T | GRCh38 |
| NC_000001.10:g.151372047C>T , CM000663.1:g.151372047C>T | GRCh37 |
| NC_000001.9:g.149638671C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002796.2:c.-17C>T | NP_002787.2:n.-17C>T |
| ENST00000290541.6:c.-17C>T | ENSP00000290541.6:n.-17C>T |
| ENST00000495288.5:n.12C>T |