Linked Data
ClinVar Variation Id:
501561
dbSNP Id:
rs774395991
ExAC:
6:152589223 T / C
gnomAD v2:
6-152589223-T-C
gnomAD v3:
6-152268088-T-C
gnomAD v4:
6-152268088-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152268088T>C , CM000668.2:g.152268088T>C | GRCh38 |
| NC_000006.11:g.152589223T>C , CM000668.1:g.152589223T>C | GRCh37 |
| NC_000006.10:g.152630916T>C | NCBI36 |
| NG_012855.1:g.374312A>G | |
| NG_012855.2:g.374312A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.18783A>G MANE Select | ENSP00000356224.5:p.Gln6261= | |
| ENST00000423061.6:c.18570A>G | ENSP00000396024.1:p.Gln6190= | |
| ENST00000341594.9:c.17568A>G | ENSP00000341887.6:p.Gln5856= | |
| ENST00000367255.9:c.18783A>G | ENSP00000356224.5:p.Gln6261= | |
| ENST00000367256.9:n.2475A>G | ||
| ENST00000409694.6:n.2367A>G | ||
| ENST00000423061.5:c.18570A>G | ENSP00000396024.1:p.Gln6190= | |
| ENST00000545694.1:n.84A>G | ||
| NM_033071.3:c.18570A>G | NP_149062.1:p.Gln6190= | |
| NM_182961.3:c.18783A>G | NP_892006.3:p.Gln6261= | |
| XM_006715407.1:c.18819A>G | XP_006715470.1:p.Gln6273= | |
| XM_006715408.1:c.18807A>G | XP_006715471.1:p.Gln6269= | |
| XM_006715409.1:c.18798A>G | XP_006715472.1:p.Gln6266= | |
| XM_006715410.1:c.18819A>G | XP_006715473.1:p.Gln6273= | |
| XM_006715411.1:c.18768A>G | XP_006715474.1:p.Gln6256= | |
| XM_006715412.1:c.18804A>G | XP_006715475.1:p.Gln6268= | |
| XM_006715413.1:c.18819A>G | XP_006715476.1:p.Gln6273= | |
| XM_006715414.1:c.18747A>G | XP_006715477.1:p.Gln6249= | |
| XM_006715415.1:c.18819A>G | XP_006715478.1:p.Gln6273= | |
| XM_006715416.1:c.18804A>G | XP_006715479.1:p.Gln6268= | |
| XM_006715417.1:c.18678A>G | XP_006715480.1:p.Gln6226= | |
| XM_006715420.1:c.18666A>G | XP_006715483.1:p.Gln6222= | |
| XM_006715421.1:c.18663A>G | XP_006715484.1:p.Gln6221= | |
| XM_006715422.1:c.18660A>G | XP_006715485.1:p.Gln6220= | |
| XM_006715423.1:c.18819A>G | XP_006715486.1:p.Gln6273= | |
| XM_006715424.1:c.18819A>G | XP_006715487.1:p.Gln6273= | |
| XM_006715425.1:c.18819A>G | XP_006715488.1:p.Gln6273= | |
| XM_011535641.1:c.18816A>G | XP_011533943.1:p.Gln6272= | |
| XM_011535642.1:c.18804A>G | XP_011533944.1:p.Gln6268= | |
| XM_011535643.1:c.18654A>G | XP_011533945.1:p.Gln6218= | |
| XM_011535644.1:c.17094A>G | XP_011533946.1:p.Gln5698= | |
| XM_011535645.1:c.16587A>G | XP_011533947.1:p.Gln5529= | |
| XM_011535646.1:c.18819A>G | XP_011533948.1:p.Gln6273= | |
| XM_011535647.1:c.12054A>G | XP_011533949.1:p.Gln4018= | |
| XM_006715408.2:c.18807A>G | XP_006715471.1:p.Gln6269= | |
| XM_006715410.2:c.18819A>G | XP_006715473.1:p.Gln6273= | |
| XM_006715412.2:c.18804A>G | XP_006715475.1:p.Gln6268= | |
| XM_006715413.2:c.18819A>G | XP_006715476.1:p.Gln6273= | |
| XM_006715415.2:c.18819A>G | XP_006715478.1:p.Gln6273= | |
| XM_006715416.2:c.18804A>G | XP_006715479.1:p.Gln6268= | |
| XM_006715417.2:c.18678A>G | XP_006715480.1:p.Gln6226= | |
| XM_006715420.2:c.18666A>G | XP_006715483.1:p.Gln6222= | |
| XM_006715421.2:c.18663A>G | XP_006715484.1:p.Gln6221= | |
| XM_006715423.2:c.18819A>G | XP_006715486.1:p.Gln6273= | |
| XM_006715424.2:c.18819A>G | XP_006715487.1:p.Gln6273= | |
| XM_006715425.2:c.18819A>G | XP_006715488.1:p.Gln6273= | |
| XM_011535641.2:c.18816A>G | XP_011533943.1:p.Gln6272= | |
| XM_011535642.2:c.18804A>G | XP_011533944.1:p.Gln6268= | |
| XM_011535645.2:c.16587A>G | XP_011533947.1:p.Gln5529= | |
| XM_017010608.1:c.18819A>G | XP_016866097.1:p.Gln6273= | |
| XM_017010609.1:c.18819A>G | XP_016866098.1:p.Gln6273= | |
| XM_017010610.1:c.18798A>G | XP_016866099.1:p.Gln6266= | |
| XM_017010611.2:c.18792A>G | XP_016866100.1:p.Gln6264= | |
| XM_017010612.1:c.18741A>G | XP_016866101.1:p.Gln6247= | |
| XM_017010613.1:c.18816A>G | XP_016866102.1:p.Gln6272= | |
| XM_017010614.1:c.18663A>G | XP_016866103.1:p.Gln6221= | |
| XM_017010615.1:c.18663A>G | XP_016866104.1:p.Gln6221= | |
| XM_017010616.1:c.18819A>G | XP_016866105.1:p.Gln6273= | |
| XM_017010617.1:c.18816A>G | XP_016866106.1:p.Gln6272= | |
| XM_017010618.1:c.18804A>G | XP_016866107.1:p.Gln6268= | |
| XM_017010619.1:c.17094A>G | XP_016866108.1:p.Gln5698= | |
| XR_001743287.1:n.19302A>G | ||
| NM_182961.4:c.18783A>G MANE Select | NP_892006.3:p.Gln6261= | |
| NM_033071.5:c.18570A>G | NP_149062.2:p.Gln6190= |