Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999731C>G , CM000679.2:g.15999731C>G | GRCh38 |
| NC_000017.10:g.15903045C>G , CM000679.1:g.15903045C>G | GRCh37 |
| NC_000017.9:g.15843770C>G | NCBI36 |
| NG_029806.1:g.5352C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.9:c.-118C>G | ENSP00000261647.5:n.-118C>G | |
| NM_001271420.1:c.-576C>G | NP_001258349.1:n.-576C>G | |
| NM_017775.3:c.-118C>G | NP_060245.3:n.-118C>G |