Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.170074763G>C , CM000663.2:g.170074763G>C | GRCh38 |
| NC_000001.10:g.170043904G>C , CM000663.1:g.170043904G>C | GRCh37 |
| NC_000001.9:g.168310528G>C | NCBI36 |
| NG_012883.2:g.4976C>G | |
| NG_012883.3:g.4976C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000490550.1:n.174+10272C>G | |
| XM_024454186.1:c.77+10272C>G | XP_024309954.1:n.77+10272C>G |
| XM_024454187.1:c.77+10272C>G | XP_024309955.1:n.77+10272C>G |