Revel Score:
ENST00000340482
0.963
ENST00000225275 (MANE Select)
0.963
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273540G>A , CM000679.2:g.58273540G>A | GRCh38 |
| NC_000017.10:g.56350901G>A , CM000679.1:g.56350901G>A | GRCh37 |
| NC_000017.9:g.53705900G>A | NCBI36 |
| NG_009629.1:g.12396C>T , LRG_84:g.12396C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.828C>T | ||
| ENST00000699291.1:c.620C>T | ENSP00000514272.1:n.620C>T | |
| ENST00000699292.1:n.535C>T | ||
| ENST00000225275.4:c.1495C>T MANE Select | ENSP00000225275.3:p.Arg499Cys | |
| ENST00000225275.3:c.1495C>T | ENSP00000225275.3:p.Arg499Cys | |
| NM_000250.1:c.1495C>T , LRG_84t1:c.1495C>T | NP_000241.1:p.Arg499Cys | |
| XM_011524821.1:c.1681C>T | XP_011523123.1:p.Arg561Cys | |
| XM_011524822.1:c.1210C>T | XP_011523124.1:p.Arg404Cys | |
| XM_011524823.1:c.*44C>T | XP_011523125.1:n.*44C>T | |
| NM_000250.2:c.1495C>T MANE Select | NP_000241.1:p.Arg499Cys |