COSMIC:
COSM3759163 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09621818 (EAS)
Genomes Max Group AF
0.08899778 (EAS)
Exomes Max Group AF
0.09640899 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36304129A>G , CM000684.2:g.36304129A>G | GRCh38 |
| NC_000022.10:g.36700175A>G , CM000684.1:g.36700175A>G | GRCh37 |
| NC_000022.9:g.35030121A>G | NCBI36 |
| NG_011884.2:g.88890T>C , LRG_567:g.88890T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685801.1:c.2319T>C | ENSP00000510688.1:p.Asn773= | |
| ENST00000691109.1:n.2551T>C | ||
| ENST00000216181.11:c.2256T>C MANE Select | ENSP00000216181.6:p.Asn752= | |
| ENST00000216181.9:c.2256T>C | ENSP00000216181.5:p.Asn752= | |
| NM_002473.5:c.2256T>C , LRG_567t1:c.2256T>C | NP_002464.1:p.Asn752= | |
| XM_011530197.1:c.2256T>C | XP_011528499.1:p.Asn752= | |
| XM_011530197.2:c.2256T>C | XP_011528499.1:p.Asn752= | |
| XM_017028803.1:c.2256T>C | XP_016884292.1:p.Asn752= | |
| XM_017028804.1:c.2256T>C | XP_016884293.1:p.Asn752= | |
| XM_017028805.1:c.2256T>C | XP_016884294.1:p.Asn752= | |
| XM_017028806.1:c.2256T>C | XP_016884295.1:p.Asn752= | |
| NM_002473.6:c.2256T>C MANE Select | NP_002464.1:p.Asn752= |