gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014867 (AFR)
Genomes Max Group AF
0.00014869 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230714140T>C , CM000663.2:g.230714140T>C | GRCh38 |
| NC_000001.10:g.230849886T>C , CM000663.1:g.230849886T>C | GRCh37 |
| NC_000001.9:g.228916509T>C | NCBI36 |
| NG_008836.1:g.5451A>G | |
| NG_008836.2:g.5451A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679684.1:c.-85A>G | ENSP00000505981.1:n.-85A>G | |
| ENST00000679738.1:c.-85A>G | ENSP00000505063.1:n.-85A>G | |
| ENST00000679802.1:c.-85A>G | ENSP00000505184.1:n.-85A>G | |
| ENST00000679854.1:n.427A>G | ||
| ENST00000679957.1:c.-85A>G | ENSP00000506646.1:n.-85A>G | |
| ENST00000680041.1:c.-210A>G | ENSP00000504866.1:n.-210A>G | |
| ENST00000680783.1:c.-85A>G | ENSP00000506329.1:n.-85A>G | |
| ENST00000681269.1:c.-30-3287A>G | ENSP00000505985.1:n.-30-3287A>G | |
| ENST00000681347.1:n.427A>G | ||
| ENST00000681772.1:c.-85A>G | ENSP00000505829.1:n.-85A>G | |
| ENST00000366667.4:c.-58A>G | ENSP00000355627.4:n.-58A>G | |
| NM_000029.3:c.-58A>G | NP_000020.1:n.-58A>G | |
| NM_001382817.3:c.-30-3287A>G | NP_001369746.2:n.-30-3287A>G |