Revel Score:
ENST00000526417
0.385
ENST00000300589
0.385
ENST00000431240
0.385
ENST00000534057
0.190
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005798 (MID)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00006092 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50722629G>T , CM000678.2:g.50722629G>T | GRCh38 |
| NC_000016.9:g.50756540G>T , CM000678.1:g.50756540G>T | GRCh37 |
| NC_000016.8:g.49314041G>T | NCBI36 |
| NG_007508.1:g.30491G>T , LRG_177:g.30491G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.2382-7189G>T | ENSP00000493088.1:n.2382-7189G>T | |
| ENST00000646677.2:c.*406G>T | ENSP00000496533.1:n.*406G>T | |
| ENST00000697425.1:c.468G>T | ||
| ENST00000697426.1:c.356G>T | ||
| ENST00000697427.1:c.272G>T | ||
| ENST00000697428.1:n.2119G>T | ||
| ENST00000641284.1:c.2382-7189G>T | ENSP00000493088.1:n.2382-7189G>T | |
| ENST00000646677.1:c.*406G>T | ENSP00000496533.1:n.*406G>T | |
| ENST00000647318.2:c.2641G>T MANE Select | ENSP00000495993.1:p.Gly881Cys | |
| ENST00000300589.6:c.2722G>T | ENSP00000300589.2:p.Gly908Cys | |
| ENST00000524712.5:c.216G>T | ||
| ENST00000527052.5:c.188G>T | ||
| ENST00000529633.5:c.300G>T | ||
| ENST00000534057.1:c.356G>T | ||
| ENST00000534067.5:c.452G>T | ||
| NM_001293557.1:c.2641G>T | NP_001280486.1:p.Gly881Cys | |
| NM_022162.2:c.2722G>T | NP_071445.1:p.Gly908Cys | |
| XM_005256084.2:c.2641G>T | XP_005256141.1:p.Gly881Cys | |
| XM_006721242.2:c.2557G>T | XP_006721305.1:p.Gly853Cys | |
| XM_011523257.1:c.2218G>T | XP_011521559.1:p.Gly740Cys | |
| XM_011523258.1:c.2218G>T | XP_011521560.1:p.Gly740Cys | |
| XM_011523259.1:c.2056G>T | XP_011521561.1:p.Gly686Cys | |
| XR_429725.2:n.2563G>T | ||
| XR_429726.2:n.2479G>T | ||
| XR_933387.1:n.2759G>T | ||
| XM_005256084.4:c.2641G>T | XP_005256141.1:p.Gly881Cys | |
| XM_006721242.4:c.2557G>T | XP_006721305.1:p.Gly853Cys | |
| XM_011523259.2:c.2056G>T | XP_011521561.1:p.Gly686Cys | |
| XM_017023535.1:c.2149G>T | XP_016879024.1:p.Gly717Cys | |
| XM_017023536.1:c.2056G>T | XP_016879025.1:p.Gly686Cys | |
| XM_017023537.1:c.2056G>T | XP_016879026.1:p.Gly686Cys | |
| XM_017023538.1:c.2056G>T | XP_016879027.1:p.Gly686Cys | |
| XR_429725.3:n.2516G>T | ||
| XR_429726.3:n.2432G>T | ||
| XR_933387.2:n.2712G>T | ||
| NM_001293557.2:c.2641G>T | NP_001280486.1:p.Gly881Cys | |
| NM_001370466.1:c.2641G>T MANE Select | NP_001357395.1:p.Gly881Cys | |
| NM_022162.3:c.2722G>T | NP_071445.1:p.Gly908Cys | |
| NR_163434.1:n.2853G>T |