Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102355536C>T , CM000664.2:g.102355536C>T | GRCh38 |
| NC_000002.11:g.102971996C>T , CM000664.1:g.102971996C>T | GRCh37 |
| NC_000002.10:g.102338428C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410040.5:c.-28-7097C>T | ENSP00000386663.1:n.-28-7097C>T |