gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18024405 (SAS)
Genomes Max Group AF
0.18024405 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37874307G>A , CM000667.2:g.37874307G>A | GRCh38 |
| NC_000005.9:g.37874409G>A , CM000667.1:g.37874409G>A | GRCh37 |
| NC_000005.8:g.37910166G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001278094.1:c.-657+41G>A | NP_001265023.1:n.-657+41G>A | |
| NR_103441.1:n.410+41G>A | ||
| NR_103442.1:n.2719+41G>A | ||
| XM_011513926.1:c.-657+41G>A | XP_011512228.1:n.-657+41G>A | |
| NR_103441.2:n.410+41G>A | ||
| NR_145476.1:n.429+41G>A |