Revel Score:
ENST00000538184
0.301
ENST00000515425 (MANE Select)
0.301
ENST00000512049
0.301
ENST00000394358
0.301
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005818 (MID)
Genomes Max Group AF
0.0000791 (NFE)
Exomes Max Group AF
0.00006092 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149027871G>A , CM000667.2:g.149027871G>A | GRCh38 |
| NC_000005.9:g.148407434G>A , CM000667.1:g.148407434G>A | GRCh37 |
| NC_000005.8:g.148387627G>A | NCBI36 |
| NG_007947.2:g.40304C>T , LRG_269:g.40304C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.1757C>T | ||
| ENST00000515425.6:c.1861C>T MANE Select | ENSP00000423660.1:p.Arg621Cys | |
| ENST00000675793.1:c.*1145C>T | ENSP00000502039.1:n.*1145C>T | |
| ENST00000676056.1:c.*1371C>T | ENSP00000501827.1:n.*1371C>T | |
| ENST00000323829.9:c.*1249C>T | ENSP00000313025.5:n.*1249C>T | |
| ENST00000504517.5:c.1391C>T | ENSP00000421779.1:n.1391C>T | |
| ENST00000504690.5:c.1861C>T | ENSP00000425627.1:p.Arg621Cys | |
| ENST00000510779.1:c.911C>T | ||
| ENST00000511307.5:c.*1641C>T | ENSP00000421420.1:n.*1641C>T | |
| ENST00000512049.5:c.1840C>T | ENSP00000421860.1:p.Arg614Cys | |
| ENST00000513604.5:c.*1249C>T | ENSP00000423111.1:n.*1249C>T | |
| ENST00000515425.5:c.1861C>T | ENSP00000423660.1:p.Arg621Cys | |
| NM_024577.3:c.1861C>T , LRG_269t1:c.1861C>T | NP_078853.2:p.Arg621Cys | |
| NM_024577.4:c.1861C>T MANE Select | NP_078853.2:p.Arg621Cys |