ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001376 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001295 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116790292G>A , CM000673.2:g.116790292G>A | GRCh38 |
| NC_000011.9:g.116661008G>A , CM000673.1:g.116661008G>A | GRCh37 |
| NC_000011.8:g.116166218G>A | NCBI36 |
| NG_015894.1:g.7129C>T | |
| NG_015894.2:g.7129C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227665.9:c.937C>T MANE Select | ENSP00000227665.4:p.Gln313Ter | |
| ENST00000433069.2:c.937C>T | ENSP00000399701.2:p.Gln313Ter | |
| ENST00000673688.1:c.1021C>T | ENSP00000501141.1:p.Gln341Ter | |
| ENST00000227665.8:c.937C>T | ENSP00000227665.4:p.Gln313Ter | |
| ENST00000542499.5:c.937C>T | ENSP00000445002.1:p.Gln313Ter | |
| NM_001166598.1:c.937C>T | NP_001160070.1:p.Gln313Ter | |
| NM_052968.4:c.937C>T | NP_443200.2:p.Gln313Ter | |
| NM_001166598.2:c.937C>T | NP_001160070.1:p.Gln313Ter | |
| NM_001371904.1:c.937C>T MANE Select | NP_001358833.1:p.Gln313Ter | |
| NM_052968.5:c.937C>T | NP_443200.2:p.Gln313Ter |