Revel Score:
ENST00000543138
0.696
ENST00000370132 (MANE Select)
0.696
ENST00000370131
0.696
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0003018 (NFE)
Genomes Max Group AF
0.00030411 (NFE)
Exomes Max Group AF
0.00029512 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100214855G>A , CM000663.2:g.100214855G>A | GRCh38 |
| NC_000001.10:g.100680411G>A , CM000663.1:g.100680411G>A | GRCh37 |
| NC_000001.9:g.100452999G>A | NCBI36 |
| NG_011852.2:g.39999C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681617.1:c.901C>T | ENSP00000505544.1:p.Arg301Cys | |
| ENST00000681780.1:c.358C>T | ENSP00000505780.1:p.Arg120Cys | |
| ENST00000370131.3:c.901C>T | ENSP00000359150.3:p.Arg301Cys | |
| ENST00000370132.8:c.901C>T MANE Select | ENSP00000359151.3:p.Arg301Cys | |
| NM_001918.3:c.901C>T | NP_001909.3:p.Arg301Cys | |
| XM_005270545.2:c.358C>T | XP_005270602.1:p.Arg120Cys | |
| XM_005270546.2:c.358C>T | XP_005270603.1:p.Arg120Cys | |
| XR_946560.1:n.921C>T | ||
| XM_005270545.4:c.358C>T | XP_005270602.1:p.Arg120Cys | |
| XM_017000468.2:c.358C>T | XP_016855957.1:p.Arg120Cys | |
| XM_017000469.2:c.358C>T | XP_016855958.1:p.Arg120Cys | |
| XR_946560.3:n.918C>T | ||
| NM_001918.4:c.901C>T | NP_001909.3:p.Arg301Cys | |
| NM_001918.5:c.901C>T MANE Select | NP_001909.4:p.Arg301Cys | |
| NM_001399969.1:c.358C>T | NP_001386898.1:p.Arg120Cys | |
| NM_001399972.1:c.358C>T | NP_001386901.1:p.Arg120Cys | |
| NR_174363.1:n.733C>T | ||
| NR_174364.1:n.915C>T | ||
| NR_174365.1:n.698C>T | ||
| NR_174366.1:n.915C>T |