gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51503921 (AFR)
Genomes Max Group AF
0.51503921 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.62787036T>C , CM000674.2:g.62787036T>C | GRCh38 |
| NC_000012.11:g.63180816T>C , CM000674.1:g.63180816T>C | GRCh37 |
| NC_000012.10:g.61467083T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228705.7:c.869+1190A>G MANE Select | ENSP00000228705.5:n.869+1190A>G | |
| ENST00000228705.6:c.869+1190A>G | ENSP00000228705.5:n.869+1190A>G | |
| ENST00000551519.1:n.259+1190A>G | ||
| NM_020700.1:c.869+1190A>G | NP_065751.1:n.869+1190A>G | |
| XM_011538578.1:c.755+1190A>G | XP_011536880.1:n.755+1190A>G | |
| XM_011538579.1:c.116+1190A>G | XP_011536881.1:n.116+1190A>G | |
| XM_011538578.2:c.755+1190A>G | XP_011536880.1:n.755+1190A>G | |
| XM_017019676.2:c.869+1190A>G | XP_016875165.1:n.869+1190A>G | |
| NM_020700.2:c.869+1190A>G MANE Select | NP_065751.1:n.869+1190A>G |