Revel Score:
ENST00000268989 (MANE Select)
0.142
ENST00000426855
0.142
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00357496 (AFR)
Genomes Max Group AF
0.00342965 (AFR)
Exomes Max Group AF
0.00342478 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2363087G>T , CM000679.2:g.2363087G>T | GRCh38 |
| NC_000017.10:g.2266381G>T , CM000679.1:g.2266381G>T | GRCh37 |
| NC_000017.9:g.2213131G>T | NCBI36 |
| NG_051965.1:g.30574G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268989.8:c.625G>T MANE Select | ENSP00000268989.3:p.Gly209Cys | |
| ENST00000268989.7:c.625G>T | ENSP00000268989.3:p.Gly209Cys | |
| ENST00000426855.6:c.625G>T | ENSP00000415107.2:p.Gly209Cys | |
| ENST00000573062.5:c.708G>T | ENSP00000476800.1:p.Gly236= | |
| ENST00000574563.5:c.625G>T | ENSP00000459126.1:p.Gly209Cys | |
| NM_001098509.1:c.625G>T | NP_001091979.1:p.Gly209Cys | |
| NM_014853.2:c.625G>T | NP_055668.2:p.Gly209Cys | |
| XM_011524101.1:c.763G>T | XP_011522403.1:p.Gly255Cys | |
| XM_011524102.1:c.763G>T | XP_011522404.1:p.Gly255Cys | |
| XM_011524103.1:c.763G>T | XP_011522405.1:p.Gly255Cys | |
| XM_011524104.1:c.715G>T | XP_011522406.1:p.Gly239Cys | |
| XM_011524105.1:c.763G>T | XP_011522407.1:p.Gly255Cys | |
| XM_011524106.1:c.625G>T | XP_011522408.1:p.Gly209Cys | |
| XM_011524107.1:c.763G>T | XP_011522409.1:p.Gly255Cys | |
| XM_011524108.1:c.625G>T | XP_011522410.1:p.Gly209Cys | |
| XM_011524109.1:c.846G>T | XP_011522411.1:p.Gly282= | |
| XM_011524110.1:c.846G>T | XP_011522412.1:p.Gly282= | |
| XR_934127.1:n.864G>T | ||
| XR_934128.1:n.864G>T | ||
| XR_934129.1:n.864G>T | ||
| NM_001346700.1:c.625G>T | NP_001333629.1:p.Gly209Cys | |
| XM_011524101.3:c.763G>T | XP_011522403.1:p.Gly255Cys | |
| XM_011524102.3:c.763G>T | XP_011522404.1:p.Gly255Cys | |
| XM_011524103.3:c.763G>T | XP_011522405.1:p.Gly255Cys | |
| XM_011524104.2:c.715G>T | XP_011522406.1:p.Gly239Cys | |
| XM_011524105.3:c.763G>T | XP_011522407.1:p.Gly255Cys | |
| XM_011524107.3:c.763G>T | XP_011522409.1:p.Gly255Cys | |
| XM_011524109.3:c.846G>T | XP_011522411.1:p.Gly282= | |
| XM_011524110.3:c.846G>T | XP_011522412.1:p.Gly282= | |
| XM_017025474.2:c.763G>T | XP_016880963.1:p.Gly255Cys | |
| XM_017025475.2:c.763G>T | XP_016880964.1:p.Gly255Cys | |
| XR_002958096.1:n.1960G>T | ||
| XR_934127.3:n.1960G>T | ||
| XR_934129.3:n.1960G>T | ||
| NM_014853.3:c.625G>T MANE Select | NP_055668.2:p.Gly209Cys | |
| NM_001098509.2:c.625G>T | NP_001091979.1:p.Gly209Cys | |
| NM_001346700.2:c.625G>T | NP_001333629.1:p.Gly209Cys |