Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.149287756C= , CM000668.2:g.149287756C= | GRCh38 |
| NC_000006.11:g.149608892C= , CM000668.1:g.149608892C= | GRCh37 |
| NC_000006.10:g.149650585C= | NCBI36 |
| NG_021386.2:g.74833C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606202.1:c.-121+68980C= | ENSP00000476139.1:n.-121+68980C= | |
| NM_001292035.2:c.6+68980C= | NP_001278964.1:n.6+68980C= | |
| NM_001292035.3:c.6+68980C= | NP_001278964.1:n.6+68980C= |