Revel Score:
ENST00000524016
0.054
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01069479 (EAS)
Genomes Max Group AF
0.00549358 (EAS)
Exomes Max Group AF
0.01116967 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43192325C>T , CM000670.2:g.43192325C>T | GRCh38 |
| NC_000008.10:g.43047468C>T , CM000670.1:g.43047468C>T | GRCh37 |
| NC_000008.9:g.43166625C>T | NCBI36 |
| NG_009552.1:g.56877C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379644.9:c.1272C>T MANE Select | ENSP00000368965.4:p.Gly424= | |
| ENST00000379644.8:c.1272C>T | ENSP00000368965.4:p.Gly424= | |
| ENST00000520678.1:n.205C>T | ||
| ENST00000521576.1:c.423C>T | ENSP00000429029.1:p.Gly141= | |
| ENST00000524016.5:c.376C>T | ||
| NM_152419.2:c.1272C>T | NP_689632.2:p.Gly424= | |
| XM_005273409.1:c.1272C>T | XP_005273466.1:p.Gly424= | |
| XM_005273410.1:c.1272C>T | XP_005273467.1:p.Gly424= | |
| XM_005273411.1:c.1080C>T | XP_005273468.1:p.Gly360= | |
| XM_005273412.2:c.1272C>T | XP_005273469.1:p.Gly424= | |
| NM_001363227.1:c.1272C>T | NP_001350156.1:p.Gly424= | |
| NM_001363228.1:c.1080C>T | NP_001350157.1:p.Gly360= | |
| NM_001363229.1:c.408C>T | NP_001350158.1:p.Gly136= | |
| XM_005273412.4:c.1272C>T | XP_005273469.1:p.Gly424= | |
| NM_152419.3:c.1272C>T MANE Select | NP_689632.2:p.Gly424= | |
| NM_001363227.2:c.1272C>T | NP_001350156.1:p.Gly424= | |
| NM_001363228.2:c.1080C>T | NP_001350157.1:p.Gly360= | |
| NM_001363229.2:c.408C>T | NP_001350158.1:p.Gly136= |