Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.149287634C>T , CM000668.2:g.149287634C>T | GRCh38 |
| NC_000006.11:g.149608770C>T , CM000668.1:g.149608770C>T | GRCh37 |
| NC_000006.10:g.149650463C>T | NCBI36 |
| NG_021386.2:g.74711C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606202.1:c.-121+68858C>T | ENSP00000476139.1:n.-121+68858C>T | |
| NM_001292035.2:c.6+68858C>T | NP_001278964.1:n.6+68858C>T | |
| NM_001292035.3:c.6+68858C>T | NP_001278964.1:n.6+68858C>T |