COSMIC:
COSM3756987 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42997214 (AFR)
Genomes Max Group AF
0.42503878 (AFR)
Exomes Max Group AF
0.43266416 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47680514C>T , CM000681.2:g.47680514C>T | GRCh38 |
| NC_000019.9:g.48183771C>T , CM000681.1:g.48183771C>T | GRCh37 |
| NC_000019.8:g.52875583C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000594866.3:c.1344C>T MANE Select | ENSP00000469738.2:p.Ser448= | |
| ENST00000614245.2:c.618C>T | ENSP00000480219.2:p.Ser206= | |
| ENST00000396720.7:c.1344C>T | ENSP00000379946.2:p.Ser448= | |
| ENST00000614245.1:c.1188C>T | ENSP00000480219.1:p.Ser396= | |
| NM_015711.3:c.1344C>T | NP_056526.3:p.Ser448= | |
| XM_005258833.3:c.1344C>T | XP_005258890.1:p.Ser448= | |
| XM_006723180.2:c.1344C>T | XP_006723243.1:p.Ser448= | |
| XM_011526882.1:c.1206C>T | XP_011525184.1:p.Ser402= | |
| XM_011526883.1:c.1344C>T | XP_011525185.1:p.Ser448= | |
| XM_005258833.4:c.1344C>T | XP_005258890.1:p.Ser448= | |
| XM_006723180.3:c.1344C>T | XP_006723243.1:p.Ser448= | |
| XM_011526882.2:c.1206C>T | XP_011525184.1:p.Ser402= | |
| XM_011526883.2:c.1344C>T | XP_011525185.1:p.Ser448= | |
| NM_001394372.1:c.1344C>T MANE Select | NP_001381301.1:p.Ser448= |