Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.75483619G= , CM000664.2:g.75483619G= | GRCh38 |
| NC_000002.11:g.75710745G= , CM000664.1:g.75710745G= | GRCh37 |
| NC_000002.10:g.75564253G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000485891.1:n.411-14249C= | |
| ENST00000490746.5:n.521-14249C= |