Revel Score:
ENST00000225929
0.039
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003675 (NFE)
Genomes Max Group AF
0.00002848 (NFE)
Exomes Max Group AF
0.00003463 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42554888G>T , CM000679.2:g.42554888G>T | GRCh38 |
| NC_000017.10:g.40706906G>T , CM000679.1:g.40706906G>T | GRCh37 |
| NC_000017.9:g.37960432G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585807.6:c.937G>T MANE Select | ENSP00000466799.1:p.Gly313Cys | |
| ENST00000225929.5:c.940G>T | ENSP00000225929.5:p.Gly314Cys | |
| ENST00000585807.5:c.937G>T | ENSP00000466799.1:p.Gly313Cys | |
| ENST00000590299.5:c.*393G>T | ENSP00000465128.1:n.*393G>T | |
| NM_000413.2:c.937G>T | NP_000404.2:p.Gly313Cys | |
| XM_005257292.2:c.1030G>T | XP_005257349.1:p.Gly344Cys | |
| XM_006721857.2:c.1119G>T | XP_006721920.1:p.Ala373= | |
| XM_006721858.2:c.1116G>T | XP_006721921.1:p.Ala372= | |
| XM_006721859.2:c.1033G>T | XP_006721922.1:p.Gly345Cys | |
| XM_011524729.1:c.1026G>T | XP_011523031.1:p.Ala342= | |
| XM_011524730.1:c.1023G>T | XP_011523032.1:p.Ala341= | |
| XM_011524731.1:c.940G>T | XP_011523033.1:p.Gly314Cys | |
| XR_934451.1:n.1219G>T | ||
| NM_000413.3:c.937G>T | NP_000404.2:p.Gly313Cys | |
| NM_001330219.2:c.940G>T | NP_001317148.1:p.Gly314Cys | |
| NR_144397.1:n.1219G>T | ||
| NM_000413.4:c.937G>T MANE Select | NP_000404.2:p.Gly313Cys | |
| NM_001330219.3:c.940G>T | NP_001317148.1:p.Gly314Cys | |
| NR_144397.2:n.854G>T |