Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32474709C>G , CM000684.2:g.32474709C>G | GRCh38 |
| NC_000022.10:g.32870696C>G , CM000684.1:g.32870696C>G | GRCh37 |
| NC_000022.9:g.31200696C>G | NCBI36 |
| NG_016001.1:g.4990C>G | |
| NG_016001.2:g.4990C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.11:c.-294C>G | ENSP00000266087.7:n.-294C>G | |
| ENST00000420700.5:c.-294C>G | ENSP00000406155.1:n.-294C>G | |
| XM_011530106.1:c.-467C>G | XP_011528408.1:n.-467C>G | |
| XM_024452207.1:c.-484C>G | XP_024307975.1:n.-484C>G |