COSMIC:
COSM3761013 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50673174 (AFR)
Genomes Max Group AF
0.49842507 (AFR)
Exomes Max Group AF
0.51346617 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1411297T>C , CM000667.2:g.1411297T>C | GRCh38 |
| NC_000005.9:g.1411412T>C , CM000667.1:g.1411412T>C | GRCh37 |
| NC_000005.8:g.1464412T>C | NCBI36 |
| NG_015885.1:g.39132A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1215A>G MANE Select | ENSP00000270349.9:p.Ser405= | |
| ENST00000270349.11:c.1215A>G | ENSP00000270349.9:p.Ser405= | |
| NM_001044.4:c.1215A>G | NP_001035.1:p.Ser405= | |
| NM_001044.5:c.1215A>G MANE Select | NP_001035.1:p.Ser405= |