gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.74171751 (AFR)
Genomes Max Group AF
0.74171751 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24594246A>G , CM000684.2:g.24594246A>G | GRCh38 |
| NC_000022.10:g.24990213A>G , CM000684.1:g.24990213A>G | GRCh37 |
| NC_000022.9:g.23320213A>G | NCBI36 |
| NG_008111.1:g.15496A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651180.1:n.59+10438A>G | ||
| ENST00000652248.1:c.*167+10438A>G | ENSP00000499210.1:n.*167+10438A>G | |
| ENST00000248923.8:c.-429+10438A>G (GGT1) | ENSP00000248923.4:n.-429+10438A>G | |
| ENST00000404603.5:c.*167+10438A>G (SNRPD3) | ENSP00000456090.1:n.*167+10438A>G | |
| ENST00000439775.1:c.*162+10438A>G (SNRPD3) | ENSP00000456969.1:n.*162+10438A>G | |
| NM_013430.2:c.-429+10438A>G (GGT1) | NP_038347.2:n.-429+10438A>G | |
| NM_013430.3:c.-429+10438A>G (GGT1) | NP_038347.2:n.-429+10438A>G |