gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47284727 (EAS)
Genomes Max Group AF
0.47284727 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43958231C>T , CM000684.2:g.43958231C>T | GRCh38 |
| NC_000022.10:g.44354111C>T , CM000684.1:g.44354111C>T | GRCh37 |
| NC_000022.9:g.42685444C>T | NCBI36 |
| NG_029057.1:g.7851C>T | |
| NG_029057.2:g.7851C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350028.5:c.21+2633C>T (SAMM50) MANE Select | ENSP00000345445.4:n.21+2633C>T | |
| ENST00000350028.4:c.21+2633C>T (SAMM50) | ENSP00000345445.4:n.21+2633C>T | |
| ENST00000406117.6:c.*850-5055C>T (PNPLA3) | ENSP00000384668.2:n.*850-5055C>T | |
| ENST00000493161.1:n.157+2633C>T (SAMM50) | ||
| NM_015380.4:c.21+2633C>T (SAMM50) | NP_056195.3:n.21+2633C>T | |
| NM_015380.5:c.21+2633C>T (SAMM50) MANE Select | NP_056195.3:n.21+2633C>T |