Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168900844C>G , CM000664.2:g.168900844C>G | GRCh38 |
| NC_000002.11:g.169757354C>G , CM000664.1:g.169757354C>G | GRCh37 |
| NC_000002.10:g.169465600C>G | NCBI36 |
| NG_011682.1:g.4605C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451987.5:c.-172-10158G>C | ENSP00000393322.1:n.-172-10158G>C | |
| ENST00000472216.2:n.177-10158G>C |