gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001169 (NFE)
Genomes Max Group AF
0.00001172 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11769705C>G , CM000670.2:g.11769705C>G | GRCh38 |
| NC_000008.10:g.11627214C>G , CM000670.1:g.11627214C>G | GRCh37 |
| NC_000008.9:g.11664623C>G | NCBI36 |
| NG_053043.1:g.5043C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436750.7:c.-89C>G | ENSP00000394023.2:n.-89C>G | |
| ENST00000455213.6:c.-251C>G | ENSP00000397538.2:n.-251C>G | |
| NM_001135746.1:c.-89C>G | NP_001129218.1:n.-89C>G | |
| NM_001135747.1:c.-132C>G | NP_001129219.1:n.-132C>G | |
| NM_001135748.1:c.-251C>G | NP_001129220.1:n.-251C>G | |
| NM_145043.2:c.-633C>G | NP_659480.1:n.-633C>G | |
| XM_005272382.1:c.-277C>G | XP_005272439.1:n.-277C>G | |
| NM_001135746.2:c.-89C>G | NP_001129218.1:n.-89C>G | |
| NM_001135747.2:c.-132C>G | NP_001129219.1:n.-132C>G | |
| NM_001135748.2:c.-251C>G | NP_001129220.1:n.-251C>G | |
| NM_001349439.1:c.-277C>G | NP_001336368.1:n.-277C>G | |
| NM_001349440.1:c.-821C>G | NP_001336369.1:n.-821C>G | |
| NM_001349441.1:c.-676C>G | NP_001336370.1:n.-676C>G | |
| NM_001349442.1:c.-251C>G | NP_001336371.1:n.-251C>G | |
| NM_145043.3:c.-633C>G | NP_659480.1:n.-633C>G | |
| NR_146180.1:n.81C>G | ||
| NR_146181.1:n.81C>G | ||
| NR_146182.1:n.81C>G |