Linked Data
ClinVar Variation Id:
56762
ClinVar RCV Id:
RCV000050175
RCV000114240
RCV000201777
RCV000560903
RCV000778866
RCV001267954
RCV002477175
dbSNP Id:
rs386834180
ExAC:
8:94793953 T / C
gnomAD v2:
8-94793953-T-C
gnomAD v3:
8-93781725-T-C
gnomAD v4:
8-93781725-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93781725T>C , CM000670.2:g.93781725T>C | GRCh38 |
| NC_000008.10:g.94793953T>C , CM000670.1:g.94793953T>C | GRCh37 |
| NC_000008.9:g.94863129T>C | NCBI36 |
| NG_009190.1:g.31882T>C , LRG_688:g.31882T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1046T>C | ENSP00000314488.4:p.Leu349Ser | |
| ENST00000409623.8:c.1046T>C | ENSP00000386966.4:p.Leu349Ser | |
| ENST00000452276.6:c.1046T>C | ENSP00000388671.2:p.Leu349Ser | |
| ENST00000453906.6:c.407-4498T>C | ENSP00000403035.2:n.407-4498T>C | |
| ENST00000520680.2:c.1046T>C | ENSP00000428785.2:p.Leu349Ser | |
| ENST00000521065.2:c.*763T>C | ENSP00000427947.2:n.*763T>C | |
| ENST00000521517.6:c.1046T>C | ENSP00000430740.2:p.Leu349Ser | |
| ENST00000681998.1:c.867T>C | ENSP00000506773.1:n.867T>C | |
| ENST00000682036.1:c.407-4498T>C | ENSP00000508390.1:n.407-4498T>C | |
| ENST00000682577.1:c.976T>C | ENSP00000506963.1:n.976T>C | |
| ENST00000682624.1:c.*620T>C | ENSP00000508343.1:n.*620T>C | |
| ENST00000682700.1:c.1046T>C | ENSP00000507627.1:p.Leu349Ser | |
| ENST00000682744.1:n.584T>C | ||
| ENST00000682804.1:n.869T>C | ||
| ENST00000682837.1:c.692T>C | ENSP00000507920.1:n.692T>C | |
| ENST00000682935.1:n.2606T>C | ||
| ENST00000682984.1:c.707T>C | ENSP00000507209.1:p.Leu236Ser | |
| ENST00000683078.1:c.801T>C | ENSP00000506796.1:n.801T>C | |
| ENST00000683223.1:c.778T>C | ENSP00000507685.1:n.778T>C | |
| ENST00000683238.1:n.2427T>C | ||
| ENST00000683249.1:n.2643T>C | ||
| ENST00000683336.1:c.867T>C | ENSP00000507695.1:n.867T>C | |
| ENST00000683362.1:c.707T>C | ENSP00000506985.1:p.Leu236Ser | |
| ENST00000683850.1:n.969T>C | ||
| ENST00000683919.1:c.976T>C | ENSP00000507617.1:n.976T>C | |
| ENST00000683953.1:c.957T>C | ENSP00000508375.1:n.957T>C | |
| ENST00000684023.1:c.1180T>C | ENSP00000507461.1:n.1180T>C | |
| ENST00000684064.1:c.737T>C | ENSP00000508192.1:p.Leu246Ser | |
| ENST00000684089.1:n.2596T>C | ||
| ENST00000684149.1:c.*382T>C | ENSP00000507943.1:n.*382T>C | |
| ENST00000684416.1:n.1005T>C | ||
| ENST00000684540.1:c.976T>C | ENSP00000507987.1:n.976T>C | |
| ENST00000453321.8:c.1046T>C MANE Select | ENSP00000389998.3:p.Leu349Ser | |
| ENST00000323130.7:c.1016T>C | ENSP00000314488.3:p.Leu339Ser | |
| ENST00000409623.7:c.803T>C | ENSP00000386966.3:p.Leu268Ser | |
| ENST00000425545.2:n.493T>C | ||
| ENST00000452276.5:c.737T>C | ENSP00000388671.1:p.Leu246Ser | |
| ENST00000453321.7:c.1046T>C | ENSP00000389998.3:p.Leu349Ser | |
| ENST00000453906.5:c.407-4498T>C | ENSP00000403035.1:n.407-4498T>C | |
| ENST00000474944.5:n.427-4498T>C | ||
| NM_001142301.1:c.803T>C , LRG_688t2:c.803T>C | NP_001135773.1:p.Leu268Ser | |
| NM_153704.5:c.1046T>C , LRG_688t1:c.1046T>C | NP_714915.3:p.Leu349Ser | |
| NR_024522.1:n.1117T>C | ||
| XM_006716686.2:c.743T>C | XP_006716749.1:p.Leu248Ser | |
| XM_006716687.2:c.446T>C | XP_006716750.1:p.Leu149Ser | |
| XM_011517363.1:c.407-4498T>C | XP_011515665.1:n.407-4498T>C | |
| XR_428387.1:n.1104T>C | ||
| XR_928360.1:n.1104T>C | ||
| XR_928361.1:n.1104T>C | ||
| XR_928362.1:n.1104T>C | ||
| XM_006716686.4:c.743T>C | XP_006716749.1:p.Leu248Ser | |
| XM_011517363.3:c.407-4498T>C | XP_011515665.1:n.407-4498T>C | |
| XM_024447326.1:c.392T>C | XP_024303094.1:p.Leu131Ser | |
| XR_001745619.2:n.1087T>C | ||
| XR_428387.2:n.1087T>C | ||
| XR_928360.3:n.1087T>C | ||
| XR_928362.3:n.1087T>C | ||
| NM_153704.6:c.1046T>C MANE Select | NP_714915.3:p.Leu349Ser | |
| NR_024522.2:n.1067T>C |