Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.149592373G= , CM000669.2:g.149592373G= | GRCh38 |
| NC_000007.13:g.149289464G= , CM000669.1:g.149289464G= | GRCh37 |
| NC_000007.12:g.148920397G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684939.1:n.649+27551C= | ||
| ENST00000690388.1:n.515+27551C= | ||
| ENST00000463567.5:n.600+27551C= | ||
| ENST00000472212.5:n.752+27551C= | ||
| ENST00000481762.5:n.219+27551C= | ||
| ENST00000486492.5:n.628+27551C= | ||
| NR_027788.1:n.663+27551C= | ||
| NR_027789.1:n.790+27551C= |