Revel Score:
ENST00000219066
0.744
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0014658 (NFE)
Genomes Max Group AF
0.00110163 (NFE)
Exomes Max Group AF
0.00147542 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046208G>A , CM000678.2:g.2046208G>A | GRCh38 |
| NC_000016.9:g.2096209G>A , CM000678.1:g.2096209G>A | GRCh37 |
| NC_000016.8:g.2036210G>A | NCBI36 |
| NG_005895.1:g.1903G>A , LRG_487:g.1903G>A | |
| NG_008412.1:g.6659C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651570.2:c.274C>T MANE Select | ENSP00000498421.1:p.Arg92Cys | |
| ENST00000651583.1:c.229C>T | ENSP00000498821.1:p.Arg77Cys | |
| ENST00000219066.5:c.298C>T | ENSP00000219066.1:p.Arg100Cys | |
| ENST00000561841.1:c.194C>T | ||
| ENST00000562120.1:n.7C>T | ||
| ENST00000566380.5:c.237C>T | ||
| ENST00000568513.5:c.173+72C>T | ||
| NM_002528.5:c.298C>T | NP_002519.1:p.Arg100Cys | |
| XM_011522505.1:c.298C>T | XP_011520807.1:p.Arg100Cys | |
| NM_001318193.1:c.298C>T | NP_001305122.1:p.Arg100Cys | |
| NM_001318194.1:c.24+72C>T | NP_001305123.1:n.24+72C>T | |
| NM_002528.6:c.298C>T | NP_002519.1:p.Arg100Cys | |
| XM_017023253.1:c.298C>T | XP_016878742.1:p.Arg100Cys | |
| NM_001318193.2:c.274C>T | NP_001305122.2:p.Arg92Cys | |
| NM_002528.7:c.274C>T MANE Select | NP_002519.2:p.Arg92Cys | |
| NM_001318194.2:c.24+72C>T | NP_001305123.1:n.24+72C>T |