Linked Data
ClinVar Variation Id:
191359
ClinVar RCV Id:
RCV000201489
dbSNP Id:
rs863223343
PubMed:
PMID:26497376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3912514T>C , CM000682.2:g.3912514T>C | GRCh38 |
| NC_000020.10:g.3893161T>C , CM000682.1:g.3893161T>C | GRCh37 |
| NC_000020.9:g.3841161T>C | NCBI36 |
| NG_008131.3:g.28676T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610179.7:c.962T>C MANE Select | ENSP00000477429.2:p.Phe321Ser | |
| ENST00000316562.9:c.1292T>C | ENSP00000313377.4:p.Phe431Ser | |
| ENST00000336066.8:c.*303T>C | ENSP00000477229.2:n.*303T>C | |
| ENST00000610179.6:c.962T>C | ENSP00000477429.2:p.Phe321Ser | |
| ENST00000643504.2:c.*592T>C | ENSP00000495157.2:n.*592T>C | |
| ENST00000646394.1:c.789T>C | ||
| ENST00000316562.8:c.1292T>C | ENSP00000313377.4:p.Phe431Ser | |
| ENST00000336066.7:c.*303T>C | ENSP00000477229.1:n.*303T>C | |
| ENST00000464452.1:n.527T>C | ||
| ENST00000495692.5:c.-17T>C | ENSP00000476745.1:n.-17T>C | |
| ENST00000497424.5:c.419T>C | ENSP00000417609.1:p.Phe140Ser | |
| ENST00000610179.5:c.923T>C | ENSP00000477429.1:p.Phe308Ser | |
| ENST00000621507.1:c.419T>C | ENSP00000481523.1:p.Phe140Ser | |
| NM_024960.4:c.419T>C | NP_079236.3:p.Phe140Ser | |
| NM_153638.2:c.1292T>C | NP_705902.2:p.Phe431Ser | |
| NM_153640.2:c.419T>C | NP_705904.1:p.Phe140Ser | |
| XM_005260835.2:c.677T>C | XP_005260892.1:p.Phe226Ser | |
| XM_005260836.3:c.419T>C | XP_005260893.3:p.Phe140Ser | |
| XM_006723631.1:c.419T>C | XP_006723694.1:p.Phe140Ser | |
| XM_011529364.1:c.1235+1684T>C | XP_011527666.1:n.1235+1684T>C | |
| NM_001324191.1:c.419T>C | NP_001311120.1:p.Phe140Ser | |
| NM_001324193.1:c.-17T>C | NP_001311122.1:n.-17T>C | |
| NM_024960.5:c.419T>C | NP_079236.3:p.Phe140Ser | |
| NM_153638.3:c.1292T>C | NP_705902.2:p.Phe431Ser | |
| NM_153640.3:c.419T>C | NP_705904.1:p.Phe140Ser | |
| NR_136715.1:n.1316T>C | ||
| XM_005260835.3:c.677T>C | XP_005260892.1:p.Phe226Ser | |
| XM_005260836.4:c.419T>C | XP_005260893.3:p.Phe140Ser | |
| XM_011529364.3:c.1235+1684T>C | XP_011527666.1:n.1235+1684T>C | |
| XM_017028077.2:c.-17T>C | XP_016883566.1:n.-17T>C | |
| XM_017028078.2:c.-17T>C | XP_016883567.1:n.-17T>C | |
| XM_017028079.2:c.-17T>C | XP_016883568.1:n.-17T>C | |
| XM_024452002.1:c.-17T>C | XP_024307770.1:n.-17T>C | |
| XR_002958533.1:n.2080T>C | ||
| NM_001324191.2:c.419T>C | NP_001311120.1:p.Phe140Ser | |
| NM_001324193.2:c.-17T>C | NP_001311122.1:n.-17T>C | |
| NM_024960.6:c.419T>C | NP_079236.3:p.Phe140Ser | |
| NR_136715.2:n.863T>C | ||
| NM_001386393.1:c.962T>C MANE Select | NP_001373322.1:p.Phe321Ser | |
| NM_153638.4:c.1292T>C | NP_705902.2:p.Phe431Ser | |
| NM_153640.4:c.419T>C | NP_705904.1:p.Phe140Ser |