Revel Score:
ENST00000248437 (MANE Select)
0.966
ENST00000392088
0.966
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219250741G>A , CM000664.2:g.219250741G>A | GRCh38 |
| NC_000002.11:g.220115463G>A , CM000664.1:g.220115463G>A | GRCh37 |
| NC_000002.10:g.219823707G>A | NCBI36 |
| NG_029913.1:g.8176C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248437.9:c.958C>T MANE Select | ENSP00000248437.4:p.Arg320Cys | |
| ENST00000248437.8:c.958C>T | ENSP00000248437.4:p.Arg320Cys | |
| ENST00000392088.6:c.913C>T | ENSP00000375938.2:p.Arg305Cys | |
| ENST00000498660.1:n.778C>T | ||
| NM_001278552.1:c.913C>T | NP_001265481.1:p.Arg305Cys | |
| NM_006000.2:c.958C>T | NP_005991.1:p.Arg320Cys | |
| XM_005246832.1:c.913C>T | XP_005246889.1:p.Arg305Cys | |
| XM_017004824.1:c.499C>T | XP_016860313.1:p.Arg167Cys | |
| NM_006000.3:c.958C>T MANE Select | NP_005991.1:p.Arg320Cys | |
| NM_001278552.2:c.913C>T | NP_001265481.1:p.Arg305Cys |