Revel Score:
ENST00000223642 (MANE Select)
0.044
ENST00000430906
0.044
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012285 (AFR)
Genomes Max Group AF
0.00011274 (AFR)
Exomes Max Group AF
0.00007712 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120997684G>A , CM000671.2:g.120997684G>A | GRCh38 |
| NC_000009.11:g.123759962G>A , CM000671.1:g.123759962G>A | GRCh37 |
| NC_000009.10:g.122799783G>A | NCBI36 |
| NG_007364.1:g.57593C>T , LRG_28:g.57593C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696279.1:c.2973C>T | ||
| ENST00000696280.1:n.2742C>T | ||
| ENST00000696281.1:c.2671C>T | ENSP00000512521.1:p.Arg891Cys | |
| ENST00000697921.1:n.1531C>T | ||
| ENST00000697922.1:c.*2643C>T | ENSP00000513478.1:n.*2643C>T | |
| ENST00000697923.1:n.3258C>T | ||
| ENST00000223642.3:c.2653C>T MANE Select | ENSP00000223642.1:p.Arg885Cys | |
| ENST00000223642.2:c.2653C>T | ENSP00000223642.1:p.Arg885Cys | |
| NM_001735.2:c.2653C>T , LRG_28t1:c.2653C>T | NP_001726.2:p.Arg885Cys | |
| XM_011518980.1:c.2668C>T | XP_011517282.1:p.Arg890Cys | |
| XM_011518981.1:c.2671C>T | XP_011517283.1:p.Arg891Cys | |
| NM_001317163.1:c.2671C>T | NP_001304092.1:p.Arg891Cys | |
| NM_001317163.2:c.2671C>T | NP_001304092.1:p.Arg891Cys | |
| NM_001735.3:c.2653C>T MANE Select | NP_001726.2:p.Arg885Cys |