Linked Data
ClinVar Variation Id:
5952
ClinVar RCV Id:
RCV003221418
dbSNP Id:
rs121908541
PubMed:
PMID:17646634
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184135552T>G , CM000665.2:g.184135552T>G | GRCh38 |
| NC_000003.11:g.183853340T>G , CM000665.1:g.183853340T>G | GRCh37 |
| NC_000003.10:g.185336034T>G | NCBI36 |
| NG_015826.1:g.5531T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432569.2:c.167T>G | ENSP00000414775.1:p.Phe56Cys | |
| ENST00000465218.3:n.190T>G | ||
| ENST00000468748.7:n.150T>G | ||
| ENST00000471832.2:c.167T>G | ENSP00000497786.1:p.Phe56Cys | |
| ENST00000491008.6:n.32T>G | ||
| ENST00000492226.2:n.164T>G | ||
| ENST00000647636.1:c.167T>G | ENSP00000497505.1:p.Phe56Cys | |
| ENST00000647909.1:c.167T>G | ENSP00000498164.1:p.Phe56Cys | |
| ENST00000648256.1:c.116T>G | ENSP00000497356.1:p.Phe39Cys | |
| ENST00000648314.1:c.167T>G | ENSP00000496920.1:p.Phe56Cys | |
| ENST00000648599.1:c.167T>G | ENSP00000497159.1:p.Phe56Cys | |
| ENST00000648630.1:c.161T>G | ENSP00000497887.1:p.Phe54Cys | |
| ENST00000648682.1:c.167T>G | ENSP00000498185.1:p.Phe56Cys | |
| ENST00000648882.1:c.167T>G | ENSP00000497603.1:p.Phe56Cys | |
| ENST00000648890.1:c.167T>G | ENSP00000497503.1:p.Phe56Cys | |
| ENST00000648915.2:c.167T>G MANE Select | ENSP00000497160.1:p.Phe56Cys | |
| ENST00000649688.1:c.167T>G | ENSP00000497097.1:p.Phe56Cys | |
| ENST00000649814.1:n.216T>G | ||
| ENST00000650244.1:c.59T>G | ENSP00000497227.1:p.Phe20Cys | |
| ENST00000650270.1:c.34T>G | ||
| ENST00000273783.7:c.167T>G | ENSP00000273783.3:p.Phe56Cys | |
| ENST00000432569.1:c.167T>G | ENSP00000414775.1:p.Phe56Cys | |
| ENST00000432982.5:c.153T>G | ||
| ENST00000444495.1:c.167T>G | ENSP00000409142.1:p.Phe56Cys | |
| ENST00000481054.5:n.168T>G | ||
| ENST00000491144.5:n.515T>G | ||
| NM_003907.2:c.167T>G | NP_003898.2:p.Phe56Cys | |
| XR_924208.1:n.1118T>G | ||
| NM_003907.3:c.167T>G MANE Select | NP_003898.2:p.Phe56Cys | |
| XM_011513266.3:c.-735T>G | XP_011511568.1:n.-735T>G | |
| XR_001740352.2:n.530T>G | ||
| XR_001740353.2:n.530T>G | ||
| XR_924208.2:n.530T>G |