gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70117408 (NFE)
Genomes Max Group AF
0.70117408 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151686754A>G , CM000668.2:g.151686754A>G | GRCh38 |
| NC_000006.11:g.152007889A>G , CM000668.1:g.152007889A>G | GRCh37 |
| NC_000006.10:g.152049582A>G | NCBI36 |
| NG_008493.1:g.1259A>G | |
| NG_008493.2:g.35064A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473497.5:n.74-15121A>G | ||
| XM_017010376.1:c.-201-15121A>G | XP_016865865.1:n.-201-15121A>G | |
| XM_017010377.1:c.-201-15121A>G | XP_016865866.1:n.-201-15121A>G | |
| XM_017010380.1:c.-71+29991A>G | XP_016865869.1:n.-71+29991A>G | |
| NM_001385568.1:c.-201-15121A>G | NP_001372497.1:n.-201-15121A>G |