ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47566722C>T , CM000685.2:g.47566722C>T | GRCh38 |
| NC_000023.10:g.47426121C>T , CM000685.1:g.47426121C>T | GRCh37 |
| NC_000023.9:g.47311065C>T | NCBI36 |
| NG_016339.1:g.10606C>T | |
| NG_016339.2:g.10606C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377045.9:c.641C>T MANE Select | ENSP00000366244.4:p.Ser214Phe | |
| ENST00000290277.10:c.650C>T | ENSP00000290277.7:p.Ser217Phe | |
| ENST00000377045.8:c.641C>T | ENSP00000366244.4:p.Ser214Phe | |
| NM_001256196.1:c.650C>T | NP_001243125.1:p.Ser217Phe | |
| NM_001654.4:c.641C>T | NP_001645.1:p.Ser214Phe | |
| XM_006724529.1:c.656C>T | XP_006724592.1:p.Ser219Phe | |
| XM_011543906.1:c.656C>T | XP_011542208.1:p.Ser219Phe | |
| XM_011543907.1:c.656C>T | XP_011542209.1:p.Ser219Phe | |
| XM_011543908.1:c.641C>T | XP_011542210.1:p.Ser214Phe | |
| XM_011543909.1:c.-17C>T | XP_011542211.1:n.-17C>T | |
| XM_006724529.3:c.656C>T | XP_006724592.1:p.Ser219Phe | |
| XM_011543906.3:c.656C>T | XP_011542208.1:p.Ser219Phe | |
| XM_011543908.3:c.641C>T | XP_011542210.1:p.Ser214Phe | |
| XM_011543909.3:c.-17C>T | XP_011542211.1:n.-17C>T | |
| NM_001654.5:c.641C>T MANE Select | NP_001645.1:p.Ser214Phe | |
| NM_001256196.2:c.650C>T | NP_001243125.1:p.Ser217Phe |