gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55955208 (EAS)
Genomes Max Group AF
0.55955208 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19797483T>C , CM000684.2:g.19797483T>C | GRCh38 |
| NC_000022.10:g.19785006T>C , CM000684.1:g.19785006T>C | GRCh37 |
| NC_000022.9:g.18165006T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329517.11:c.732+4518A>G MANE Select | ENSP00000331313.6:n.732+4518A>G | |
| ENST00000329517.10:c.732+4518A>G | ENSP00000331313.6:n.732+4518A>G | |
| ENST00000403325.5:c.732+4518A>G | ENSP00000385154.1:n.732+4518A>G | |
| ENST00000405009.5:c.630+4620A>G | ENSP00000384626.1:n.630+4620A>G | |
| ENST00000460402.5:n.700+4518A>G | ||
| NM_053004.2:c.732+4518A>G | NP_443730.1:n.732+4518A>G | |
| NM_053004.3:c.732+4518A>G MANE Select | NP_443730.1:n.732+4518A>G |