Revel Score:
ENST00000260947 (MANE Select)
0.233
ENST00000449967
0.233
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022382 (MID)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00023608 (MID)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214767602T>C , CM000664.2:g.214767602T>C | GRCh38 |
| NC_000002.11:g.215632326T>C , CM000664.1:g.215632326T>C | GRCh37 |
| NC_000002.10:g.215340571T>C | NCBI36 |
| NG_012047.2:g.47103A>G | |
| NG_012047.3:g.47110A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1448A>G MANE Select | ENSP00000260947.4:p.His483Arg | |
| ENST00000421162.2:c.216-15047A>G | ENSP00000392245.2:n.216-15047A>G | |
| ENST00000613192.2:c.159-37094A>G | ENSP00000483275.2:n.159-37094A>G | |
| ENST00000613374.5:c.159-15047A>G | ENSP00000484464.1:n.159-15047A>G | |
| ENST00000613706.5:c.1040A>G | ENSP00000484976.2:p.His347Arg | |
| ENST00000617164.5:c.1391A>G | ENSP00000480470.1:p.His464Arg | |
| ENST00000619009.5:c.364+24695A>G | ENSP00000482293.1:n.364+24695A>G | |
| ENST00000650978.1:c.2823A>G | ||
| ENST00000260947.8:c.1448A>G | ENSP00000260947.4:p.His483Arg | |
| ENST00000421162.1:c.216-15047A>G | ENSP00000392245.1:n.216-15047A>G | |
| ENST00000455743.5:c.*1068A>G | ENSP00000412186.1:n.*1068A>G | |
| ENST00000613192.1:c.74-37094A>G | ENSP00000483275.1:n.74-37094A>G | |
| ENST00000613374.4:c.159-15047A>G | ENSP00000484464.1:n.159-15047A>G | |
| ENST00000613706.4:c.216-15047A>G | ENSP00000484976.1:n.216-15047A>G | |
| ENST00000617164.4:c.1391A>G | ENSP00000480470.1:p.His464Arg | |
| ENST00000619009.4:c.364+24695A>G | ENSP00000482293.1:n.364+24695A>G | |
| ENST00000620057.4:c.*114A>G | ENSP00000481988.1:n.*114A>G | |
| NM_000465.3:c.1448A>G | NP_000456.2:p.His483Arg | |
| NM_001282543.1:c.1391A>G | NP_001269472.1:p.His464Arg | |
| NM_001282545.1:c.216-15047A>G | NP_001269474.1:n.216-15047A>G | |
| NM_001282548.1:c.159-15047A>G | NP_001269477.1:n.159-15047A>G | |
| NM_001282549.1:c.364+24695A>G | NP_001269478.1:n.364+24695A>G | |
| NR_104212.1:n.1441A>G | ||
| NR_104215.1:n.1384A>G | ||
| NR_104216.1:n.640A>G | ||
| XM_011511567.1:c.1394A>G | XP_011509869.1:p.His465Arg | |
| XM_011511568.1:c.1448A>G | XP_011509870.1:p.His483Arg | |
| XM_017004613.1:c.1547A>G | XP_016860102.1:p.His516Arg | |
| XM_017004614.1:c.1547A>G | XP_016860103.1:p.His516Arg | |
| XR_002959322.1:n.1638A>G | ||
| NM_000465.4:c.1448A>G MANE Select | NP_000456.2:p.His483Arg | |
| NM_001282543.2:c.1391A>G | NP_001269472.1:p.His464Arg | |
| NM_001282545.2:c.216-15047A>G | NP_001269474.1:n.216-15047A>G | |
| NM_001282548.2:c.159-15047A>G | NP_001269477.1:n.159-15047A>G | |
| NM_001282549.2:c.364+24695A>G | NP_001269478.1:n.364+24695A>G | |
| NR_104212.2:n.1413A>G | ||
| NR_104215.2:n.1356A>G | ||
| NR_104216.2:n.612A>G |