Revel Score:
ENST00000393895
0.018
ENST00000524228
0.018
ENST00000265293 (MANE Select)
0.111
ENST00000521089
0.111
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15967968 (NFE)
Genomes Max Group AF
0.15510372 (NFE)
Exomes Max Group AF
0.15982554 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168408534C>T , CM000667.2:g.168408534C>T | GRCh38 |
| NC_000005.9:g.167835539C>T , CM000667.1:g.167835539C>T | GRCh37 |
| NC_000005.8:g.167768117C>T | NCBI36 |
| NG_016712.1:g.121475C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265293.9:c.748C>T MANE Select | ENSP00000265293.4:p.Arg250Cys | |
| ENST00000265293.8:c.748C>T | ENSP00000265293.4:p.Arg250Cys | |
| ENST00000393895.7:c.632C>T | ||
| ENST00000517425.5:n.83C>T | ||
| ENST00000519659.5:n.98C>T | ||
| ENST00000521089.5:c.748C>T | ENSP00000427772.1:p.Arg250Cys | |
| ENST00000523043.5:n.525C>T | ||
| ENST00000524228.5:c.77C>T | ||
| NM_001161661.1:c.748C>T | NP_001155133.1:p.Arg250Cys | |
| NM_001161662.1:c.748C>T | NP_001155134.1:p.Arg250Cys | |
| NM_015238.2:c.748C>T | NP_056053.1:p.Arg250Cys | |
| XM_005265850.1:c.748C>T | XP_005265907.1:p.Arg250Cys | |
| XM_005265853.1:c.748C>T | XP_005265910.1:p.Arg250Cys | |
| XM_011534485.1:c.748C>T | XP_011532787.1:p.Arg250Cys | |
| XM_011534486.1:c.748C>T | XP_011532788.1:p.Arg250Cys | |
| XM_011534487.1:c.748C>T | XP_011532789.1:p.Arg250Cys | |
| XM_011534488.1:c.748C>T | XP_011532790.1:p.Arg250Cys | |
| XM_011534489.1:c.748C>T | XP_011532791.1:p.Arg250Cys | |
| XM_011534490.1:c.748C>T | XP_011532792.1:p.Arg250Cys | |
| XM_011534491.1:c.748C>T | XP_011532793.1:p.Arg250Cys | |
| XM_005265853.2:c.748C>T | XP_005265910.1:p.Arg250Cys | |
| XM_017009276.1:c.748C>T | XP_016864765.1:p.Arg250Cys | |
| XM_017009278.1:c.466C>T | XP_016864767.1:p.Arg156Cys | |
| NM_001161661.2:c.748C>T | NP_001155133.1:p.Arg250Cys | |
| NM_001161662.2:c.748C>T | NP_001155134.1:p.Arg250Cys | |
| NM_015238.3:c.748C>T MANE Select | NP_056053.1:p.Arg250Cys |