dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00218617 (AFR)
Genomes Max Group AF
0.00226677 (AFR)
Exomes Max Group AF
0.00183137 (AFR)
Revel Score:
ENST00000543174
0.732
ENST00000265724
0.732
ENST00000543898
0.732
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87509442A>G , CM000669.2:g.87509442A>G | GRCh38 |
| NC_000007.13:g.87138758A>G , CM000669.1:g.87138758A>G | GRCh37 |
| NC_000007.12:g.86976694A>G | NCBI36 |
| NG_011513.1:g.208807T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.3322T>C | ENSP00000265724.3:p.Trp1108Arg | |
| ENST00000622132.5:c.3322T>C MANE Select | ENSP00000478255.1:p.Trp1108Arg | |
| ENST00000265724.7:c.3322T>C | ENSP00000265724.3:p.Trp1108Arg | |
| ENST00000475929.5:n.478T>C | ||
| ENST00000488737.6:n.964T>C | ||
| ENST00000543898.5:c.3130T>C | ENSP00000444095.1:p.Trp1044Arg | |
| ENST00000622132.4:c.3322T>C | ENSP00000478255.1:p.Trp1108Arg | |
| NM_000927.4:c.3322T>C | NP_000918.2:p.Trp1108Arg | |
| NM_001348944.1:c.3322T>C | NP_001335873.1:p.Trp1108Arg | |
| NM_001348945.1:c.3532T>C | NP_001335874.1:p.Trp1178Arg | |
| NM_001348946.1:c.3322T>C | NP_001335875.1:p.Trp1108Arg | |
| NM_001348946.2:c.3322T>C MANE Select | NP_001335875.1:p.Trp1108Arg | |
| NM_000927.5:c.3322T>C | NP_000918.2:p.Trp1108Arg | |
| NM_001348944.2:c.3322T>C | NP_001335873.1:p.Trp1108Arg | |
| NM_001348945.2:c.3532T>C | NP_001335874.1:p.Trp1178Arg |