Revel Score:
ENST00000447944 (MANE Select)
0.287
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00060665 (AFR)
Genomes Max Group AF
0.00054059 (AFR)
Exomes Max Group AF
0.00055239 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55672026T>C , CM000664.2:g.55672026T>C | GRCh38 |
| NC_000002.11:g.55899161T>C , CM000664.1:g.55899161T>C | GRCh37 |
| NC_000002.10:g.55752665T>C | NCBI36 |
| NG_033012.1:g.26885A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.887A>G MANE Select | ENSP00000400646.2:p.Tyr296Cys | |
| ENST00000260604.8:c.*442A>G | ENSP00000260604.4:n.*442A>G | |
| ENST00000415374.5:c.887A>G | ENSP00000393953.1:p.Tyr296Cys | |
| ENST00000447944.6:c.887A>G | ENSP00000400646.2:p.Tyr296Cys | |
| NM_033109.4:c.887A>G | NP_149100.2:p.Tyr296Cys | |
| XM_005264629.1:c.647A>G | XP_005264686.1:p.Tyr216Cys | |
| XM_011533142.1:c.887A>G | XP_011531444.1:p.Tyr296Cys | |
| XM_005264629.2:c.647A>G | XP_005264686.1:p.Tyr216Cys | |
| XM_017005172.1:c.647A>G | XP_016860661.1:p.Tyr216Cys | |
| XR_001739010.1:n.917A>G | ||
| NM_033109.5:c.887A>G MANE Select | NP_149100.2:p.Tyr296Cys |