Revel Score:
ENST00000358023
0.895
ENST00000354729
0.895
ENST00000421865 (MANE Select)
0.895
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0001648 (NFE)
Genomes Max Group AF
0.00007918 (NFE)
Exomes Max Group AF
0.00016598 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129143976C>T , CM000668.2:g.129143976C>T | GRCh38 |
| NC_000006.11:g.129465121C>T , CM000668.1:g.129465121C>T | GRCh37 |
| NC_000006.10:g.129506814C>T | NCBI36 |
| NG_008678.1:g.265836C>T , LRG_409:g.265836C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.715C>T | ENSP00000481744.2:p.Arg239Cys | |
| ENST00000618192.5:c.715C>T | ENSP00000480802.2:p.Arg239Cys | |
| ENST00000685128.1:n.244C>T | ||
| ENST00000686577.1:n.781C>T | ||
| ENST00000686599.1:n.820C>T | ||
| ENST00000689044.1:n.605C>T | ||
| ENST00000690881.1:n.178C>T | ||
| ENST00000421865.3:c.715C>T MANE Select | ENSP00000400365.2:p.Arg239Cys | |
| ENST00000421865.2:c.715C>T | ENSP00000400365.2:p.Arg239Cys | |
| ENST00000617695.4:c.715C>T | ENSP00000481744.1:p.Arg239Cys | |
| ENST00000618192.4:c.715C>T | ENSP00000480802.1:p.Arg239Cys | |
| NM_000426.3:c.715C>T , LRG_409t1:c.715C>T | NP_000417.2:p.Arg239Cys | |
| NM_001079823.1:c.715C>T | NP_001073291.1:p.Arg239Cys | |
| XM_005266981.2:c.715C>T | XP_005267038.1:p.Arg239Cys | |
| XM_005266982.2:c.715C>T | XP_005267039.1:p.Arg239Cys | |
| XM_011535820.1:c.715C>T | XP_011534122.1:p.Arg239Cys | |
| XM_005266981.3:c.715C>T | XP_005267038.1:p.Arg239Cys | |
| XM_005266982.3:c.715C>T | XP_005267039.1:p.Arg239Cys | |
| XM_011535820.2:c.715C>T | XP_011534122.1:p.Arg239Cys | |
| XM_017010851.2:c.721C>T | XP_016866340.1:p.Arg241Cys | |
| XM_017010853.1:c.715C>T | XP_016866342.1:p.Arg239Cys | |
| NM_000426.4:c.715C>T MANE Select | NP_000417.3:p.Arg239Cys | |
| NM_001079823.2:c.715C>T | NP_001073291.2:p.Arg239Cys |