Linked Data
ClinVar Variation Id:
448564
dbSNP Id:
rs200589166
ExAC:
6:152615097 C / G
gnomAD v2:
6-152615097-C-G
gnomAD v3:
6-152293962-C-G
gnomAD v4:
6-152293962-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152293962C>G , CM000668.2:g.152293962C>G | GRCh38 |
| NC_000006.11:g.152615097C>G , CM000668.1:g.152615097C>G | GRCh37 |
| NC_000006.10:g.152656790C>G | NCBI36 |
| NG_012855.1:g.348438G>C | |
| NG_012855.2:g.348438G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.17848G>C MANE Select | ENSP00000356224.5:p.Val5950Leu | |
| ENST00000423061.6:c.17635G>C | ENSP00000396024.1:p.Val5879Leu | |
| ENST00000341594.9:c.16633G>C | ENSP00000341887.6:p.Val5545Leu | |
| ENST00000367255.9:c.17848G>C | ENSP00000356224.5:p.Val5950Leu | |
| ENST00000367256.9:n.1540G>C | ||
| ENST00000409694.6:n.1432G>C | ||
| ENST00000423061.5:c.17635G>C | ENSP00000396024.1:p.Val5879Leu | |
| ENST00000489156.1:n.567G>C | ||
| ENST00000537033.1:c.514G>C | ENSP00000443879.1:p.Val172Leu | |
| ENST00000540663.5:c.373G>C | ENSP00000437411.1:p.Val125Leu | |
| NM_033071.3:c.17635G>C | NP_149062.1:p.Val5879Leu | |
| NM_182961.3:c.17848G>C | NP_892006.3:p.Val5950Leu | |
| XM_006715407.1:c.17869G>C | XP_006715470.1:p.Val5957Leu | |
| XM_006715408.1:c.17869G>C | XP_006715471.1:p.Val5957Leu | |
| XM_006715409.1:c.17848G>C | XP_006715472.1:p.Val5950Leu | |
| XM_006715410.1:c.17869G>C | XP_006715473.1:p.Val5957Leu | |
| XM_006715411.1:c.17818G>C | XP_006715474.1:p.Val5940Leu | |
| XM_006715412.1:c.17869G>C | XP_006715475.1:p.Val5957Leu | |
| XM_006715413.1:c.17869G>C | XP_006715476.1:p.Val5957Leu | |
| XM_006715414.1:c.17797G>C | XP_006715477.1:p.Val5933Leu | |
| XM_006715415.1:c.17869G>C | XP_006715478.1:p.Val5957Leu | |
| XM_006715416.1:c.17869G>C | XP_006715479.1:p.Val5957Leu | |
| XM_006715417.1:c.17728G>C | XP_006715480.1:p.Val5910Leu | |
| XM_006715420.1:c.17728G>C | XP_006715483.1:p.Val5910Leu | |
| XM_006715421.1:c.17713G>C | XP_006715484.1:p.Val5905Leu | |
| XM_006715422.1:c.17710G>C | XP_006715485.1:p.Val5904Leu | |
| XM_006715423.1:c.17869G>C | XP_006715486.1:p.Val5957Leu | |
| XM_006715424.1:c.17869G>C | XP_006715487.1:p.Val5957Leu | |
| XM_006715425.1:c.17869G>C | XP_006715488.1:p.Val5957Leu | |
| XM_011535641.1:c.17869G>C | XP_011533943.1:p.Val5957Leu | |
| XM_011535642.1:c.17869G>C | XP_011533944.1:p.Val5957Leu | |
| XM_011535643.1:c.17704G>C | XP_011533945.1:p.Val5902Leu | |
| XM_011535644.1:c.16144G>C | XP_011533946.1:p.Val5382Leu | |
| XM_011535645.1:c.15637G>C | XP_011533947.1:p.Val5213Leu | |
| XM_011535646.1:c.17869G>C | XP_011533948.1:p.Val5957Leu | |
| XM_011535647.1:c.11104G>C | XP_011533949.1:p.Val3702Leu | |
| XM_006715408.2:c.17869G>C | XP_006715471.1:p.Val5957Leu | |
| XM_006715410.2:c.17869G>C | XP_006715473.1:p.Val5957Leu | |
| XM_006715412.2:c.17869G>C | XP_006715475.1:p.Val5957Leu | |
| XM_006715413.2:c.17869G>C | XP_006715476.1:p.Val5957Leu | |
| XM_006715415.2:c.17869G>C | XP_006715478.1:p.Val5957Leu | |
| XM_006715416.2:c.17869G>C | XP_006715479.1:p.Val5957Leu | |
| XM_006715417.2:c.17728G>C | XP_006715480.1:p.Val5910Leu | |
| XM_006715420.2:c.17728G>C | XP_006715483.1:p.Val5910Leu | |
| XM_006715421.2:c.17713G>C | XP_006715484.1:p.Val5905Leu | |
| XM_006715423.2:c.17869G>C | XP_006715486.1:p.Val5957Leu | |
| XM_006715424.2:c.17869G>C | XP_006715487.1:p.Val5957Leu | |
| XM_006715425.2:c.17869G>C | XP_006715488.1:p.Val5957Leu | |
| XM_011535641.2:c.17869G>C | XP_011533943.1:p.Val5957Leu | |
| XM_011535642.2:c.17869G>C | XP_011533944.1:p.Val5957Leu | |
| XM_011535645.2:c.15637G>C | XP_011533947.1:p.Val5213Leu | |
| XM_017010608.1:c.17869G>C | XP_016866097.1:p.Val5957Leu | |
| XM_017010609.1:c.17869G>C | XP_016866098.1:p.Val5957Leu | |
| XM_017010610.1:c.17848G>C | XP_016866099.1:p.Val5950Leu | |
| XM_017010611.2:c.17842G>C | XP_016866100.1:p.Val5948Leu | |
| XM_017010612.1:c.17791G>C | XP_016866101.1:p.Val5931Leu | |
| XM_017010613.1:c.17869G>C | XP_016866102.1:p.Val5957Leu | |
| XM_017010614.1:c.17728G>C | XP_016866103.1:p.Val5910Leu | |
| XM_017010615.1:c.17728G>C | XP_016866104.1:p.Val5910Leu | |
| XM_017010616.1:c.17869G>C | XP_016866105.1:p.Val5957Leu | |
| XM_017010617.1:c.17869G>C | XP_016866106.1:p.Val5957Leu | |
| XM_017010618.1:c.17869G>C | XP_016866107.1:p.Val5957Leu | |
| XM_017010619.1:c.16144G>C | XP_016866108.1:p.Val5382Leu | |
| XR_001743287.1:n.18352G>C | ||
| NM_182961.4:c.17848G>C MANE Select | NP_892006.3:p.Val5950Leu | |
| NM_033071.5:c.17635G>C | NP_149062.2:p.Val5879Leu |