Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42130889G>C , CM000684.2:g.42130889G>C | GRCh38 |
| NC_000022.10:g.42526891G>C , CM000684.1:g.42526891G>C | GRCh37 |
| NC_000022.9:g.40856835G>C | NCBI36 |
| NG_008376.3:g.4103C>G | |
| NG_008376.4:g.4922C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360608.9:c.-98C>G | ENSP00000353820.5:n.-98C>G | |
| XM_011529966.1:c.-98C>G | XP_011528268.1:n.-98C>G | |
| XM_011529967.1:c.-98C>G | XP_011528269.1:n.-98C>G | |
| XM_011529968.1:c.-98C>G | XP_011528270.1:n.-98C>G | |
| XM_011529969.1:c.37+408C>G | XP_011528271.1:n.37+408C>G | |
| XM_011529970.1:c.-98C>G | XP_011528272.1:n.-98C>G | |
| XM_011529971.1:c.37+408C>G | XP_011528273.1:n.37+408C>G | |
| XM_011529972.1:c.-98C>G | XP_011528274.1:n.-98C>G | |
| XR_430455.2:n.328+201G>C | ||
| XR_002958749.1:n.275+201G>C |