gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28018164 (AMR)
Genomes Max Group AF
0.28018164 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.81541443T>C , CM000666.2:g.81541443T>C | GRCh38 |
| NC_000004.11:g.82462597T>C , CM000666.1:g.82462597T>C | GRCh37 |
| NC_000004.10:g.82681621T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638048.1:c.255+61396A>G | ENSP00000490436.1:n.255+61396A>G | |
| ENST00000512716.1:c.-140-19898A>G | ENSP00000476065.1:n.-140-19898A>G |