ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00211273 (SAS)
Genomes Max Group AF
0.00175329 (SAS)
Exomes Max Group AF
0.00207764 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197090946C>T , CM000663.2:g.197090946C>T | GRCh38 |
| NC_000001.10:g.197060076C>T , CM000663.1:g.197060076C>T | GRCh37 |
| NC_000001.9:g.195326699C>T | NCBI36 |
| NG_015867.1:g.60749G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2827G>A | ||
| ENST00000367409.9:c.9540G>A MANE Select | ENSP00000356379.4:p.Gln3180= | |
| ENST00000680265.1:c.9762G>A | ENSP00000505384.1:p.Gln3254= | |
| ENST00000680710.1:c.9516G>A | ENSP00000506676.1:p.Gln3172= | |
| ENST00000294732.11:c.4785G>A | ENSP00000294732.7:p.Gln1595= | |
| ENST00000367408.5:c.2535G>A | ENSP00000356378.1:p.Gln845= | |
| ENST00000367409.8:c.9540G>A | ENSP00000356379.4:p.Gln3180= | |
| ENST00000612785.1:c.3498G>A | ENSP00000479244.1:p.Gln1166= | |
| NM_001206846.1:c.4785G>A | NP_001193775.1:p.Gln1595= | |
| NM_018136.4:c.9540G>A | NP_060606.3:p.Gln3180= | |
| NM_018136.5:c.9540G>A MANE Select | NP_060606.3:p.Gln3180= | |
| NM_001206846.2:c.4785G>A | NP_001193775.1:p.Gln1595= |