COSMIC:
COSM1025918 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0171547 (NFE)
Genomes Max Group AF
0.01613729 (NFE)
Exomes Max Group AF
0.01717314 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33412656C>T , CM000682.2:g.33412656C>T | GRCh38 |
| NC_000020.10:g.32000462C>T , CM000682.1:g.32000462C>T | GRCh37 |
| NC_000020.9:g.31464123C>T | NCBI36 |
| NG_011622.1:g.36237G>A , LRG_332:g.36237G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.828G>A MANE Select | ENSP00000217381.2:p.Lys276= | |
| ENST00000217381.2:c.828G>A | ENSP00000217381.2:p.Lys276= | |
| NM_003098.2:c.828G>A , LRG_332t1:c.828G>A | NP_003089.1:p.Lys276= | |
| XM_005260517.1:c.828G>A | XP_005260574.1:p.Lys276= | |
| XM_011529007.1:c.828G>A | XP_011527309.1:p.Lys276= | |
| XM_011529008.1:c.828G>A | XP_011527310.1:p.Lys276= | |
| XR_936612.1:n.1061G>A | ||
| XM_024451971.1:c.501G>A | XP_024307739.1:p.Lys167= | |
| NM_003098.3:c.828G>A MANE Select | NP_003089.1:p.Lys276= |