Linked Data
ClinVar Variation Id:
45773
dbSNP Id:
rs140029076
ExAC:
17:18064722 C / T
gnomAD v2:
17-18064722-C-T
gnomAD v3:
17-18161408-C-T
gnomAD v4:
17-18161408-C-T
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18161408C>T , CM000679.2:g.18161408C>T | GRCh38 |
| NC_000017.10:g.18064722C>T , CM000679.1:g.18064722C>T | GRCh37 |
| NC_000017.9:g.18005447C>T | NCBI36 |
| NG_011634.1:g.57703C>T | |
| NG_011634.2:g.57703C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642418.1:n.1742C>T | ||
| ENST00000643693.1:n.1280C>T | ||
| ENST00000644795.1:c.1270C>T | ENSP00000495720.1:p.Leu424Phe | |
| ENST00000646782.1:n.2212C>T | ||
| ENST00000647165.2:c.9478C>T MANE Select | ENSP00000495481.1:p.Leu3160Phe | |
| ENST00000651214.1:n.1909C>T | ||
| ENST00000205890.9:c.9478C>T | ENSP00000205890.5:p.Leu3160Phe | |
| ENST00000418233.7:c.1270C>T | ENSP00000408800.3:p.Leu424Phe | |
| ENST00000433411.7:n.928C>T | ||
| ENST00000445289.6:n.408C>T | ||
| ENST00000473013.1:n.662C>T | ||
| ENST00000556535.5:c.340C>T | ENSP00000451782.1:p.Leu114Phe | |
| ENST00000557190.5:n.306C>T | ||
| ENST00000557655.5:c.*158C>T | ENSP00000451925.1:n.*158C>T | |
| ENST00000578472.5:c.340C>T | ENSP00000467989.1:p.Leu114Phe | |
| ENST00000578575.1:c.41C>T | ||
| ENST00000579848.6:c.193C>T | ENSP00000465910.1:p.Leu65Phe | |
| ENST00000615845.4:c.9478C>T | ENSP00000481642.1:p.Leu3160Phe | |
| NM_016239.3:c.9478C>T | NP_057323.3:p.Leu3160Phe | |
| XM_011523921.1:c.9472C>T | XP_011522223.1:p.Leu3158Phe | |
| XM_017024714.2:c.9418C>T | XP_016880203.1:p.Leu3140Phe | |
| XM_017024715.2:c.9481C>T | XP_016880204.1:p.Leu3161Phe | |
| NM_016239.4:c.9478C>T MANE Select | NP_057323.3:p.Leu3160Phe |