Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.28162352A= , CM000668.2:g.28162352A= | GRCh38 |
| NC_000006.11:g.28130130A= , CM000668.1:g.28130130A= | GRCh37 |
| NC_000006.10:g.28238109A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000562227.2:n.54-257A= | ||
| ENST00000440790.6:n.42-228A= | ||
| ENST00000570126.1:n.31-228A= | ||
| NR_103448.1:n.62-228A= |