Linked Data
ClinVar Variation Id:
38358
ClinVar RCV Id:
RCV000031914
dbSNP Id:
rs267607260
PubMed:
PMID:22593919
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27309934G>A , CM000664.2:g.27309934G>A | GRCh38 |
| NC_000002.11:g.27532802G>A , CM000664.1:g.27532802G>A | GRCh37 |
| NC_000002.10:g.27386306G>A | NCBI36 |
| NG_008075.1:g.17630C>T | |
| NG_033055.1:g.3329C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380044.6:c.509C>T MANE Select | ENSP00000369383.1:p.Ser170Phe | |
| ENST00000233545.6:c.509C>T | ENSP00000233545.2:p.Ser170Phe | |
| ENST00000357186.10:c.341C>T | ENSP00000349713.6:p.Ser114Phe | |
| ENST00000380044.5:c.509C>T | ENSP00000369383.1:p.Ser170Phe | |
| ENST00000402310.5:c.456C>T | ENSP00000383955.1:p.Val152= | |
| ENST00000402722.5:c.*88C>T | ENSP00000386000.1:n.*88C>T | |
| ENST00000405076.5:c.320C>T | ENSP00000385175.1:p.Ser107Phe | |
| ENST00000405983.5:c.554C>T | ENSP00000384586.1:p.Ser185Phe | |
| ENST00000415514.5:c.*310C>T | ENSP00000388043.1:n.*310C>T | |
| ENST00000426513.6:c.*174C>T | ENSP00000403824.2:n.*174C>T | |
| ENST00000430991.5:c.343C>T | ||
| ENST00000620797.4:n.182C>T | ||
| ENST00000621183.4:n.812C>T | ||
| NM_002437.4:c.509C>T | NP_002428.1:p.Ser170Phe | |
| XM_005264326.2:c.509C>T | XP_005264383.1:p.Ser170Phe | |
| XM_005264327.2:c.350C>T | XP_005264384.1:p.Ser117Phe | |
| XM_006712021.2:c.461C>T | XP_006712084.1:p.Ser154Phe | |
| XM_005264326.4:c.509C>T | XP_005264383.1:p.Ser170Phe | |
| XM_006712021.3:c.461C>T | XP_006712084.1:p.Ser154Phe | |
| XM_017004150.1:c.491C>T | XP_016859639.1:p.Ser164Phe | |
| XM_017004151.1:c.461C>T | XP_016859640.1:p.Ser154Phe | |
| XM_017004152.1:c.350C>T | XP_016859641.1:p.Ser117Phe | |
| XM_024452913.1:c.461C>T | XP_024308681.1:p.Ser154Phe | |
| NM_002437.5:c.509C>T MANE Select | NP_002428.1:p.Ser170Phe |