Revel Score:
ENST00000445856
0.016
ENST00000272167 (MANE Select)
0.016
ENST00000366837
0.016
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006763 (SAS)
Exomes Max Group AF
0.00006246 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.225838705A>T , CM000663.2:g.225838705A>T | GRCh38 |
| NC_000001.10:g.226026406A>T , CM000663.1:g.226026406A>T | GRCh37 |
| NC_000001.9:g.224093029A>T | NCBI36 |
| NG_009776.1:g.33610A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272167.10:c.416A>T MANE Select | ENSP00000272167.5:p.His139Leu | |
| ENST00000272167.9:c.416A>T | ENSP00000272167.5:p.His139Leu | |
| ENST00000366837.5:c.416A>T | ENSP00000355802.4:p.His139Leu | |
| ENST00000445856.5:c.416A>T | ENSP00000398491.1:p.His139Leu | |
| ENST00000614058.4:c.416A>T | ENSP00000480004.1:p.His139Leu | |
| NM_000120.3:c.416A>T | NP_000111.1:p.His139Leu | |
| NM_001136018.3:c.416A>T | NP_001129490.1:p.His139Leu | |
| NM_001291163.1:c.416A>T | NP_001278092.1:p.His139Leu | |
| NM_000120.4:c.416A>T | NP_000111.1:p.His139Leu | |
| NM_001136018.4:c.416A>T MANE Select | NP_001129490.1:p.His139Leu | |
| NM_001291163.2:c.416A>T | NP_001278092.1:p.His139Leu | |
| NM_001378426.1:c.416A>T | NP_001365355.1:p.His139Leu | |
| NM_001378427.1:c.416A>T | NP_001365356.1:p.His139Leu | |
| NM_001378428.1:c.389A>T | NP_001365357.1:p.His130Leu | |
| NM_001378429.1:c.416A>T | NP_001365358.1:p.His139Leu | |
| NM_001378430.1:c.416A>T | NP_001365359.1:p.His139Leu | |
| NM_001378431.1:c.365-512A>T | NP_001365360.1:n.365-512A>T | |
| NM_001378432.1:c.365-3661A>T | NP_001365361.1:n.365-3661A>T | |
| NR_165624.1:n.370-3709A>T | ||
| NR_165625.1:n.467A>T | ||
| NR_165626.1:n.913A>T | ||
| NR_165627.1:n.612A>T |