gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.955794C>G , CM000671.2:g.955794C>G | GRCh38 |
| NC_000009.11:g.955794C>G , CM000671.1:g.955794C>G | GRCh37 |
| NC_000009.10:g.945794C>G | NCBI36 |
| NG_009221.1:g.119105C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382276.8:c.968-12191C>G MANE Select | ENSP00000371711.3:n.968-12191C>G | |
| ENST00000382276.7:c.968-12191C>G | ENSP00000371711.3:n.968-12191C>G | |
| ENST00000569227.1:c.494-12191C>G | ENSP00000454701.1:n.494-12191C>G | |
| NM_021951.2:c.968-12191C>G | NP_068770.2:n.968-12191C>G | |
| XM_006716732.1:c.971-12191C>G | XP_006716795.1:n.971-12191C>G | |
| XM_011517770.1:c.1019-12191C>G | XP_011516072.1:n.1019-12191C>G | |
| XM_011517771.1:c.1016-12191C>G | XP_011516073.1:n.1016-12191C>G | |
| XM_011517772.1:c.871-12191C>G | XP_011516074.1:n.871-12191C>G | |
| XM_011517773.1:c.497-12191C>G | XP_011516075.1:n.497-12191C>G | |
| NM_001363767.1:c.494-12191C>G | NP_001350696.1:n.494-12191C>G | |
| XM_011517773.3:c.497-12191C>G | XP_011516075.1:n.497-12191C>G | |
| XM_017014374.1:c.*36-12191C>G | XP_016869863.1:n.*36-12191C>G | |
| XM_017014375.1:c.*36-12191C>G | XP_016869864.1:n.*36-12191C>G | |
| XM_024447434.1:c.422-12191C>G | XP_024303202.1:n.422-12191C>G | |
| NM_021951.3:c.968-12191C>G MANE Select | NP_068770.2:n.968-12191C>G |