Linked Data
ClinVar Variation Id:
376702
ClinVar RCV Id:
RCV002244867
dbSNP Id:
rs1057520013
PubMed:
PMID:20581473
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8436118A>C , CM000673.2:g.8436118A>C | GRCh38 |
| NC_000011.9:g.8457665A>C , CM000673.1:g.8457665A>C | GRCh37 |
| NC_000011.8:g.8414241A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000687296.1:c.969T>G MANE Select | ENSP00000509322.1:p.Phe323Leu | |
| ENST00000315204.5:c.969T>G | ENSP00000320754.1:p.Phe323Leu | |
| ENST00000358872.7:c.408T>G | ENSP00000351743.3:p.Phe136Leu | |
| ENST00000396672.5:c.969T>G | ENSP00000379905.1:p.Phe323Leu | |
| ENST00000444064.6:c.234T>G | ENSP00000415688.2:p.Phe78Leu | |
| ENST00000447869.5:c.969T>G | ENSP00000416750.1:p.Phe323Leu | |
| ENST00000473980.5:n.107T>G | ||
| ENST00000486305.6:n.3462T>G | ||
| ENST00000526517.1:n.360T>G | ||
| ENST00000534493.5:c.846T>G | ENSP00000436418.1:p.Phe282Leu | |
| NM_001289058.1:c.846T>G | NP_001275987.1:p.Phe282Leu | |
| NM_001289059.1:c.408T>G | NP_001275988.1:p.Phe136Leu | |
| NM_001289061.1:c.969T>G | NP_001275990.1:p.Phe323Leu | |
| NM_030906.3:c.969T>G | NP_112168.1:p.Phe323Leu | |
| XM_011520288.1:c.969T>G | XP_011518590.1:p.Phe323Leu | |
| XM_011520289.1:c.969T>G | XP_011518591.1:p.Phe323Leu | |
| XM_011520290.1:c.969T>G | XP_011518592.1:p.Phe323Leu | |
| XM_011520291.1:c.969T>G | XP_011518593.1:p.Phe323Leu | |
| XM_011520292.1:c.969T>G | XP_011518594.1:p.Phe323Leu | |
| XM_011520293.1:c.969T>G | XP_011518595.1:p.Phe323Leu | |
| XM_011520294.1:c.969T>G | XP_011518596.1:p.Phe323Leu | |
| XM_011520295.1:c.969T>G | XP_011518597.1:p.Phe323Leu | |
| XM_011520296.1:c.846T>G | XP_011518598.1:p.Phe282Leu | |
| XM_011520297.1:c.846T>G | XP_011518599.1:p.Phe282Leu | |
| XM_011520298.1:c.969T>G | XP_011518600.1:p.Phe323Leu | |
| XR_428847.2:n.1153T>G | ||
| NM_001352387.1:c.969T>G | NP_001339316.1:p.Phe323Leu | |
| NM_001352388.1:c.969T>G | NP_001339317.1:p.Phe323Leu | |
| NM_001352389.1:c.969T>G | NP_001339318.1:p.Phe323Leu | |
| NM_001352390.1:c.969T>G | NP_001339319.1:p.Phe323Leu | |
| NM_001352391.1:c.969T>G | NP_001339320.1:p.Phe323Leu | |
| NM_001352392.1:c.969T>G | NP_001339321.1:p.Phe323Leu | |
| NM_001352393.1:c.969T>G | NP_001339322.1:p.Phe323Leu | |
| NM_001352394.1:c.846T>G | NP_001339323.1:p.Phe282Leu | |
| NM_001352395.1:c.846T>G | NP_001339324.1:p.Phe282Leu | |
| NM_001352396.1:c.846T>G | NP_001339325.1:p.Phe282Leu | |
| NM_001352397.1:c.846T>G | NP_001339326.1:p.Phe282Leu | |
| NM_001352398.1:c.846T>G | NP_001339327.1:p.Phe282Leu | |
| NM_001352399.1:c.969T>G | NP_001339328.1:p.Phe323Leu | |
| XM_011520290.2:c.969T>G | XP_011518592.1:p.Phe323Leu | |
| XM_011520295.2:c.969T>G | XP_011518597.1:p.Phe323Leu | |
| XM_011520297.2:c.846T>G | XP_011518599.1:p.Phe282Leu | |
| XM_017018144.2:c.969T>G | XP_016873633.1:p.Phe323Leu | |
| XM_017018145.1:c.969T>G | XP_016873634.1:p.Phe323Leu | |
| XM_017018146.1:c.969T>G | XP_016873635.1:p.Phe323Leu | |
| XM_017018147.1:c.969T>G | XP_016873636.1:p.Phe323Leu | |
| XM_017018148.1:c.969T>G | XP_016873637.1:p.Phe323Leu | |
| XM_017018152.1:c.969T>G | XP_016873641.1:p.Phe323Leu | |
| XM_017018153.2:c.969T>G | XP_016873642.1:p.Phe323Leu | |
| XM_017018154.1:c.969T>G | XP_016873643.1:p.Phe323Leu | |
| XM_017018155.2:c.969T>G | XP_016873644.1:p.Phe323Leu | |
| XM_017018156.1:c.969T>G | XP_016873645.1:p.Phe323Leu | |
| XM_017018157.1:c.846T>G | XP_016873646.1:p.Phe282Leu | |
| XM_017018159.1:c.969T>G | XP_016873648.1:p.Phe323Leu | |
| XM_017018161.1:c.969T>G | XP_016873650.1:p.Phe323Leu | |
| XR_001747938.1:n.3537T>G | ||
| XR_001747939.1:n.3461T>G | ||
| NM_001289058.2:c.846T>G | NP_001275987.1:p.Phe282Leu | |
| NM_001289059.2:c.408T>G | NP_001275988.1:p.Phe136Leu | |
| NM_001289061.2:c.969T>G | NP_001275990.1:p.Phe323Leu | |
| NM_001352387.2:c.969T>G | NP_001339316.1:p.Phe323Leu | |
| NM_001352388.2:c.969T>G | NP_001339317.1:p.Phe323Leu | |
| NM_001352389.2:c.969T>G MANE Select | NP_001339318.1:p.Phe323Leu | |
| NM_001352390.2:c.969T>G | NP_001339319.1:p.Phe323Leu | |
| NM_001352391.2:c.969T>G | NP_001339320.1:p.Phe323Leu | |
| NM_001352392.2:c.969T>G | NP_001339321.1:p.Phe323Leu | |
| NM_001352393.2:c.969T>G | NP_001339322.1:p.Phe323Leu | |
| NM_001352394.2:c.846T>G | NP_001339323.1:p.Phe282Leu | |
| NM_001352395.2:c.846T>G | NP_001339324.1:p.Phe282Leu | |
| NM_001352396.2:c.846T>G | NP_001339325.1:p.Phe282Leu | |
| NM_001352397.2:c.846T>G | NP_001339326.1:p.Phe282Leu | |
| NM_001352398.2:c.846T>G | NP_001339327.1:p.Phe282Leu | |
| NM_001352399.2:c.969T>G | NP_001339328.1:p.Phe323Leu | |
| NM_030906.4:c.969T>G | NP_112168.1:p.Phe323Leu |