Revel Score:
ENST00000355710 (MANE Select)
0.100
ENST00000340058
0.100
ENST00000535749
0.100
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001533 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00001295 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43106485A>G , CM000672.2:g.43106485A>G | GRCh38 |
| NC_000010.10:g.43601933A>G , CM000672.1:g.43601933A>G | GRCh37 |
| NC_000010.9:g.42921939A>G | NCBI36 |
| NG_007489.1:g.34417A>G , LRG_518:g.34417A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.867+1292A>G | ENSP00000480088.2:n.867+1292A>G | |
| ENST00000683007.1:n.551A>G | ||
| ENST00000340058.6:c.977A>G | ENSP00000344798.4:p.Gln326Arg | |
| ENST00000355710.8:c.977A>G MANE Select | ENSP00000347942.3:p.Gln326Arg | |
| ENST00000671844.1:c.625+3856A>G | ENSP00000500541.1:n.625+3856A>G | |
| ENST00000672389.1:c.74-4722A>G | ENSP00000500252.1:n.74-4722A>G | |
| ENST00000340058.5:c.977A>G | ENSP00000344798.4:p.Gln326Arg | |
| ENST00000355710.7:c.977A>G | ENSP00000347942.3:p.Gln326Arg | |
| ENST00000479913.1:n.572A>G | ||
| ENST00000498820.5:c.74-5614A>G | ENSP00000419080.1:n.74-5614A>G | |
| ENST00000615310.4:c.977A>G | ENSP00000480088.1:p.Gln326Arg | |
| NM_020630.4:c.977A>G , LRG_518t2:c.977A>G | NP_065681.1:p.Gln326Arg | |
| NM_020975.4:c.977A>G , LRG_518t1:c.977A>G | NP_066124.1:p.Gln326Arg | |
| XM_011540027.1:c.977A>G | XP_011538329.1:p.Gln326Arg | |
| NM_001355216.1:c.215A>G | NP_001342145.1:p.Gln72Arg | |
| NM_020630.5:c.977A>G | NP_065681.1:p.Gln326Arg | |
| NM_020975.5:c.977A>G | NP_066124.1:p.Gln326Arg | |
| NM_020975.6:c.977A>G MANE Select | NP_066124.1:p.Gln326Arg | |
| NM_020630.6:c.977A>G | NP_065681.1:p.Gln326Arg |