COSMIC:
COSM3735957 (not active)
Revel Score:
ENST00000445856
0.028
ENST00000272167 (MANE Select)
0.028
ENST00000366837
0.028
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33743503 (AFR)
Genomes Max Group AF
0.33360968 (AFR)
Exomes Max Group AF
0.33894819 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225838705A>G , CM000663.2:g.225838705A>G | GRCh38 |
| NC_000001.10:g.226026406A>G , CM000663.1:g.226026406A>G | GRCh37 |
| NC_000001.9:g.224093029A>G | NCBI36 |
| NG_009776.1:g.33610A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272167.10:c.416A>G MANE Select | ENSP00000272167.5:p.His139Arg | |
| ENST00000272167.9:c.416A>G | ENSP00000272167.5:p.His139Arg | |
| ENST00000366837.5:c.416A>G | ENSP00000355802.4:p.His139Arg | |
| ENST00000445856.5:c.416A>G | ENSP00000398491.1:p.His139Arg | |
| ENST00000614058.4:c.416A>G | ENSP00000480004.1:p.His139Arg | |
| NM_000120.3:c.416A>G | NP_000111.1:p.His139Arg | |
| NM_001136018.3:c.416A>G | NP_001129490.1:p.His139Arg | |
| NM_001291163.1:c.416A>G | NP_001278092.1:p.His139Arg | |
| NM_000120.4:c.416A>G | NP_000111.1:p.His139Arg | |
| NM_001136018.4:c.416A>G MANE Select | NP_001129490.1:p.His139Arg | |
| NM_001291163.2:c.416A>G | NP_001278092.1:p.His139Arg | |
| NM_001378426.1:c.416A>G | NP_001365355.1:p.His139Arg | |
| NM_001378427.1:c.416A>G | NP_001365356.1:p.His139Arg | |
| NM_001378428.1:c.389A>G | NP_001365357.1:p.His130Arg | |
| NM_001378429.1:c.416A>G | NP_001365358.1:p.His139Arg | |
| NM_001378430.1:c.416A>G | NP_001365359.1:p.His139Arg | |
| NM_001378431.1:c.365-512A>G | NP_001365360.1:n.365-512A>G | |
| NM_001378432.1:c.365-3661A>G | NP_001365361.1:n.365-3661A>G | |
| NR_165624.1:n.370-3709A>G | ||
| NR_165625.1:n.467A>G | ||
| NR_165626.1:n.913A>G | ||
| NR_165627.1:n.612A>G |