Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168917561C>G , CM000664.2:g.168917561C>G | GRCh38 |
| NC_000002.11:g.169774071C>G , CM000664.1:g.169774071C>G | GRCh37 |
| NC_000002.10:g.169482317C>G | NCBI36 |
| NG_007374.2:g.118836G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000648875.1:c.227-1879G>C | |
| XM_017005165.1:c.3868-1879G>C | XP_016860654.1:n.3868-1879G>C |