ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001328 (AMR)
Genomes Max Group AF
0.00000489 (NFE)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64746796A>G , CM000673.2:g.64746796A>G | GRCh38 |
| NC_000011.9:g.64514268A>G , CM000673.1:g.64514268A>G | GRCh37 |
| NC_000011.8:g.64270844A>G | NCBI36 |
| NG_007574.1:g.3661T>C , LRG_100:g.3661T>C | |
| NG_013018.1:g.18920T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.2392T>C MANE Select | ENSP00000164139.3:p.Trp798Arg | |
| ENST00000164139.3:c.2392T>C | ENSP00000164139.3:p.Trp798Arg | |
| ENST00000377432.7:c.2128T>C | ENSP00000366650.3:p.Trp710Arg | |
| ENST00000483742.1:n.1745T>C | ||
| NM_001164716.1:c.2128T>C | NP_001158188.1:p.Trp710Arg | |
| NM_005609.2:c.2392T>C | NP_005600.1:p.Trp798Arg | |
| NM_005609.3:c.2392T>C | NP_005600.1:p.Trp798Arg | |
| NM_005609.4:c.2392T>C MANE Select | NP_005600.1:p.Trp798Arg |