ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00083603 (NFE)
Genomes Max Group AF
0.00044353 (NFE)
Exomes Max Group AF
0.00085213 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17047491T>C , CM000672.2:g.17047491T>C | GRCh38 |
| NC_000010.10:g.17089490T>C , CM000672.1:g.17089490T>C | GRCh37 |
| NC_000010.9:g.17129496T>C | NCBI36 |
| NG_008967.1:g.87327A>G , LRG_540:g.87327A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377833.10:c.3252A>G MANE Select | ENSP00000367064.4:p.Gln1084= | |
| ENST00000377833.8:c.3252A>G | ENSP00000367064.4:p.Gln1084= | |
| NM_001081.3:c.3252A>G , LRG_540t1:c.3252A>G | NP_001072.2:p.Gln1084= | |
| XM_011519708.1:c.3252A>G | XP_011518010.1:p.Gln1084= | |
| XM_011519708.2:c.3252A>G | XP_011518010.1:p.Gln1084= | |
| NM_001081.4:c.3252A>G MANE Select | NP_001072.2:p.Gln1084= |