Linked Data
ClinVar Variation Id:
1933
ClinVar RCV Id:
RCV000002010
dbSNP Id:
rs119103216
COSMIC:
COSM5885520
PubMed:
PMID:11406611
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183034068G>A , CM000665.2:g.183034068G>A | GRCh38 |
| NC_000003.11:g.182751856G>A , CM000665.1:g.182751856G>A | GRCh37 |
| NC_000003.10:g.184234550G>A | NCBI36 |
| NG_008100.1:g.70510C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265594.9:c.1604C>T MANE Select | ENSP00000265594.4:p.Ser535Phe | |
| ENST00000265594.8:c.1604C>T | ENSP00000265594.4:p.Ser535Phe | |
| ENST00000476176.5:c.1463C>T | ENSP00000420433.1:p.Ser488Phe | |
| ENST00000489909.1:n.148C>T | ||
| ENST00000492597.5:c.1277C>T | ENSP00000419898.1:p.Ser426Phe | |
| ENST00000495767.5:c.*1185C>T | ENSP00000419658.1:n.*1185C>T | |
| ENST00000497830.5:c.*1201C>T | ENSP00000420088.1:n.*1201C>T | |
| ENST00000497959.5:c.1273C>T | ENSP00000420648.1:p.Leu425Phe | |
| ENST00000539926.5:c.1154C>T | ENSP00000441253.2:p.Ser385Phe | |
| ENST00000610757.4:c.1154C>T | ENSP00000480435.1:p.Ser385Phe | |
| ENST00000629669.2:c.1273C>T | ENSP00000486824.1:p.Leu425Phe | |
| NM_001293273.1:c.1253C>T | NP_001280202.1:p.Ser418Phe | |
| NM_020166.4:c.1604C>T | NP_064551.3:p.Ser535Phe | |
| NR_120639.1:n.1518C>T | ||
| NR_120640.1:n.2054C>T | ||
| XM_006713702.1:c.1277C>T | XP_006713765.1:p.Ser426Phe | |
| XM_011512992.1:c.1490C>T | XP_011511294.1:p.Ser497Phe | |
| XM_011512993.1:c.1387C>T | XP_011511295.1:p.Leu463Phe | |
| XR_241502.2:n.1534C>T | ||
| XR_924159.1:n.1751C>T | ||
| NM_001363880.1:c.1277C>T | NP_001350809.1:p.Ser426Phe | |
| XM_011512992.2:c.1490C>T | XP_011511294.1:p.Ser497Phe | |
| XR_001740207.2:n.1727C>T | ||
| XR_001740208.2:n.1727C>T | ||
| XR_001740209.2:n.1480C>T | ||
| XR_001740210.1:n.1557C>T | ||
| XR_002959553.1:n.1727C>T | ||
| XR_002959554.1:n.1510C>T | ||
| XR_241502.3:n.1480C>T | ||
| NM_020166.5:c.1604C>T MANE Select | NP_064551.3:p.Ser535Phe | |
| NM_001293273.2:c.1253C>T | NP_001280202.1:p.Ser418Phe | |
| NR_120639.2:n.1427C>T | ||
| NR_120640.2:n.2054C>T |