ClinVar RCV:
ClinVar Variation:
gnomAD v4:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43963386A>C , CM000684.2:g.43963386A>C | GRCh38 |
| NC_000022.10:g.44359266A>C , CM000684.1:g.44359266A>C | GRCh37 |
| NC_000022.9:g.42690599A>C | NCBI36 |
| NG_029057.1:g.13006A>C | |
| NG_029057.2:g.13006A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350028.5:c.122A>C (SAMM50) MANE Select | ENSP00000345445.4:p.Glu41Ala | |
| ENST00000350028.4:c.122A>C (SAMM50) | ENSP00000345445.4:p.Glu41Ala | |
| ENST00000406117.6:c.*950A>C (PNPLA3) | ENSP00000384668.2:n.*950A>C | |
| ENST00000493161.1:n.314+160A>C (SAMM50) | ||
| NM_015380.4:c.122A>C (SAMM50) | NP_056195.3:p.Glu41Ala | |
| NM_015380.5:c.122A>C (SAMM50) MANE Select | NP_056195.3:p.Glu41Ala |