gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25931921 (AFR)
Genomes Max Group AF
0.25931921 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.15688538T>G , CM000673.2:g.15688538T>G | GRCh38 |
| NC_000011.9:g.15710084T>G , CM000673.1:g.15710084T>G | GRCh37 |
| NC_000011.8:g.15666660T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001293172.1:c.107-15795T>G | NP_001280101.1:n.107-15795T>G | |
| XM_011519838.1:c.107-15795T>G | XP_011518140.1:n.107-15795T>G | |
| XM_011519839.1:c.107-15795T>G | XP_011518141.1:n.107-15795T>G | |
| XM_011519838.3:c.107-15795T>G | XP_011518140.1:n.107-15795T>G | |
| XM_011519839.2:c.107-15795T>G | XP_011518141.1:n.107-15795T>G | |
| NR_169502.1:n.757-15795T>G | ||
| NR_169503.1:n.771-15795T>G | ||
| NR_169507.1:n.84-15795T>G | ||
| NR_169508.1:n.494-15795T>G | ||
| NR_169509.1:n.253-15795T>G |