COSMIC:
COSM1604458 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32950077 (AMR)
Genomes Max Group AF
0.27950857 (AMR)
Exomes Max Group AF
0.34774804 (AMR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2776007G>A , CM000673.2:g.2776007G>A | GRCh38 |
| NC_000011.9:g.2797237G>A , CM000673.1:g.2797237G>A | GRCh37 |
| NC_000011.8:g.2753813G>A | NCBI36 |
| NG_008935.1:g.336017G>A , LRG_287:g.336017G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1281G>A | ENSP00000434560.2:p.Ser427= | |
| ENST00000646564.2:c.1098G>A | ENSP00000495806.2:p.Ser366= | |
| ENST00000155840.12:c.1638G>A MANE Select | ENSP00000155840.2:p.Ser546= | |
| ENST00000335475.6:c.1257G>A | ENSP00000334497.5:p.Ser419= | |
| ENST00000646564.1:c.744G>A | ENSP00000495806.1:p.Ser248= | |
| ENST00000155840.9:c.1638G>A | ENSP00000155840.2:p.Ser546= | |
| ENST00000335475.5:c.1257G>A | ENSP00000334497.5:p.Ser419= | |
| NM_000218.2:c.1638G>A , LRG_287t1:c.1638G>A | NP_000209.2:p.Ser546= | |
| NM_181798.1:c.1257G>A , LRG_287t2:c.1257G>A | NP_861463.1:p.Ser419= | |
| NM_000218.3:c.1638G>A MANE Select | NP_000209.2:p.Ser546= |