Linked Data
ClinVar Variation Id:
3502
ClinVar RCV Id:
RCV000003677
dbSNP Id:
rs28941777
PubMed:
PMID:9529364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32392053A>G , CM000673.2:g.32392053A>G | GRCh38 |
| NC_000011.9:g.32413599A>G , CM000673.1:g.32413599A>G | GRCh37 |
| NC_000011.8:g.32370175A>G | NCBI36 |
| NG_009272.1:g.48489T>C , LRG_525:g.48489T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332351.9:c.1315T>C | ENSP00000331327.5:p.Phe439Leu | |
| ENST00000379077.9:c.*550T>C | ENSP00000368368.5:n.*550T>C | |
| ENST00000379079.8:c.715T>C | ENSP00000368370.2:p.Phe239Leu | |
| ENST00000448076.9:c.1366T>C | ENSP00000413452.5:p.Phe456Leu | |
| ENST00000452863.10:c.1366T>C MANE Select | ENSP00000415516.5:p.Phe456Leu | |
| ENST00000526685.2:n.820T>C | ||
| ENST00000639563.3:c.1315T>C | ENSP00000492269.3:p.Phe439Leu | |
| ENST00000639907.2:n.509T>C | ||
| ENST00000640146.2:c.691T>C | ENSP00000491984.2:p.Phe231Leu | |
| ENST00000650745.1:n.1176T>C | ||
| ENST00000650861.1:n.1947T>C | ||
| ENST00000650986.1:n.29T>C | ||
| ENST00000651459.1:c.137T>C | ||
| ENST00000651533.1:n.412T>C | ||
| ENST00000651668.1:n.303T>C | ||
| ENST00000651794.1:n.1209T>C | ||
| ENST00000651819.1:n.291T>C | ||
| ENST00000652579.1:n.626T>C | ||
| ENST00000652724.1:n.556T>C | ||
| ENST00000332351.7:c.1351T>C | ENSP00000331327.3:p.Phe451Leu | |
| ENST00000379077.7:c.*550T>C | ENSP00000368368.3:n.*550T>C | |
| ENST00000379079.6:c.715T>C | ENSP00000368370.2:p.Phe239Leu | |
| ENST00000448076.7:c.1351T>C | ENSP00000413452.3:p.Phe451Leu | |
| ENST00000452863.7:c.1300T>C | ENSP00000415516.3:p.Phe434Leu | |
| ENST00000527882.5:c.332T>C | ||
| ENST00000530998.5:c.664T>C | ENSP00000435307.1:p.Phe222Leu | |
| NM_000378.4:c.1300T>C | NP_000369.3:p.Phe434Leu | |
| NM_001198551.1:c.715T>C , LRG_525t2:c.715T>C | NP_001185480.1:p.Phe239Leu | |
| NM_001198552.1:c.664T>C | NP_001185481.1:p.Phe222Leu | |
| NM_024424.3:c.1351T>C | NP_077742.2:p.Phe451Leu | |
| NM_024426.4:c.1351T>C | NP_077744.3:p.Phe451Leu | |
| NM_000378.5:c.1315T>C | NP_000369.4:p.Phe439Leu | |
| NM_024424.4:c.1366T>C | NP_077742.3:p.Phe456Leu | |
| NM_024426.5:c.1366T>C | NP_077744.4:p.Phe456Leu | |
| NM_001367854.1:c.178T>C | NP_001354783.1:p.Phe60Leu | |
| NR_160306.1:n.1698T>C | ||
| NM_000378.6:c.1315T>C | NP_000369.4:p.Phe439Leu | |
| NM_001198552.2:c.664T>C | NP_001185481.1:p.Phe222Leu | |
| NM_024424.5:c.1366T>C | NP_077742.3:p.Phe456Leu | |
| NM_024426.6:c.1366T>C MANE Select | NP_077744.4:p.Phe456Leu |