ClinVar Variation:
COSMIC:
COSM5005043
COSM5005044
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0003439 (NFE)
Genomes Max Group AF
0.00037926 (NFE)
Exomes Max Group AF
0.00033442 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156873850C>T , CM000663.2:g.156873850C>T | GRCh38 |
| NC_000001.10:g.156843642C>T , CM000663.1:g.156843642C>T | GRCh37 |
| NC_000001.9:g.155110266C>T | NCBI36 |
| NG_007493.1:g.63101C>T , LRG_261:g.63101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.906C>T | ENSP00000502725.1:p.Asn302= | |
| ENST00000392302.7:c.906C>T | ENSP00000376120.3:p.Asn302= | |
| ENST00000497019.7:c.773C>T | ENSP00000436804.2:p.Thr258Met | |
| ENST00000524377.7:c.1068C>T MANE Select | ENSP00000431418.1:p.Asn356= | |
| ENST00000674537.1:c.906C>T | ENSP00000502725.1:p.Asn302= | |
| ENST00000358660.3:c.1068C>T | ENSP00000351486.3:p.Asn356= | |
| ENST00000368196.7:c.1068C>T | ENSP00000357179.3:p.Asn356= | |
| ENST00000392302.6:c.978C>T | ENSP00000376120.2:p.Asn326= | |
| ENST00000489021.6:n.530C>T | ||
| ENST00000497019.6:c.845C>T | ENSP00000436804.1:p.Thr282Met | |
| ENST00000524377.5:c.1068C>T | ENSP00000431418.1:p.Asn356= | |
| ENST00000530298.5:n.1126C>T | ||
| NM_001007792.1:c.978C>T , LRG_261t1:c.978C>T | NP_001007793.1:p.Asn326= | |
| NM_001012331.1:c.1068C>T , LRG_261t2:c.1068C>T | NP_001012331.1:p.Asn356= | |
| NM_002529.3:c.1068C>T , LRG_261t3:c.1068C>T | NP_002520.2:p.Asn356= | |
| NM_001012331.2:c.1068C>T | NP_001012331.1:p.Asn356= | |
| NM_002529.4:c.1068C>T MANE Select | NP_002520.2:p.Asn356= |