COSMIC:
COSM5019314 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12032554 (AFR)
Genomes Max Group AF
0.11733915 (AFR)
Exomes Max Group AF
0.12428581 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36288285C>T , CM000684.2:g.36288285C>T | GRCh38 |
| NC_000022.10:g.36684331C>T , CM000684.1:g.36684331C>T | GRCh37 |
| NC_000022.9:g.35014277C>T | NCBI36 |
| NG_011884.2:g.104734G>A , LRG_567:g.104734G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685801.1:c.4962G>A | ENSP00000510688.1:p.Arg1654= | |
| ENST00000691109.1:n.5194G>A | ||
| ENST00000216181.11:c.4899G>A MANE Select | ENSP00000216181.6:p.Arg1633= | |
| ENST00000216181.9:c.4899G>A | ENSP00000216181.5:p.Arg1633= | |
| NM_002473.5:c.4899G>A , LRG_567t1:c.4899G>A | NP_002464.1:p.Arg1633= | |
| XM_011530197.1:c.4899G>A | XP_011528499.1:p.Arg1633= | |
| XM_011530197.2:c.4899G>A | XP_011528499.1:p.Arg1633= | |
| XM_017028803.1:c.4899G>A | XP_016884292.1:p.Arg1633= | |
| XM_017028804.1:c.4899G>A | XP_016884293.1:p.Arg1633= | |
| XM_017028805.1:c.4899G>A | XP_016884294.1:p.Arg1633= | |
| XM_017028806.1:c.4899G>A | XP_016884295.1:p.Arg1633= | |
| NM_002473.6:c.4899G>A MANE Select | NP_002464.1:p.Arg1633= |