Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42131469C>G , CM000684.2:g.42131469C>G | GRCh38 |
| NG_008376.3:g.3523G>C | |
| NG_008376.4:g.4342G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.-678G>C | XP_011528268.1:n.-678G>C | |
| XM_011529967.1:c.-678G>C | XP_011528269.1:n.-678G>C | |
| XM_011529968.1:c.-678G>C | XP_011528270.1:n.-678G>C | |
| XM_011529969.1:c.-136G>C | XP_011528271.1:n.-136G>C | |
| XM_011529970.1:c.-678G>C | XP_011528272.1:n.-678G>C | |
| XM_011529971.1:c.-136G>C | XP_011528273.1:n.-136G>C | |
| XM_011529972.1:c.-678G>C | XP_011528274.1:n.-678G>C | |
| XR_430455.2:n.329-585C>G | ||
| XR_002958749.1:n.276-585C>G |