Linked Data
ClinVar Variation Id:
283246
dbSNP Id:
rs200276242
ExAC:
6:152763284 C / T
gnomAD v2:
6-152763284-C-T
gnomAD v3:
6-152442149-C-T
gnomAD v4:
6-152442149-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152442149C>T , CM000668.2:g.152442149C>T | GRCh38 |
| NC_000006.11:g.152763284C>T , CM000668.1:g.152763284C>T | GRCh37 |
| NC_000006.10:g.152804977C>T | NCBI36 |
| NG_012855.1:g.200251G>A | |
| NG_012855.2:g.200251G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.3934G>A MANE Select | ENSP00000356224.5:p.Glu1312Lys | |
| ENST00000423061.6:c.3955G>A | ENSP00000396024.1:p.Glu1319Lys | |
| ENST00000671915.1:c.1231G>A | ENSP00000500319.1:p.Glu411Lys | |
| ENST00000672122.1:c.3877G>A | ENSP00000500559.1:p.Glu1293Lys | |
| ENST00000673163.1:c.*3904G>A | ENSP00000499934.1:n.*3904G>A | |
| ENST00000673281.1:c.3928G>A | ENSP00000500893.1:p.Glu1310Lys | |
| ENST00000341594.9:c.4081G>A | ENSP00000341887.6:p.Glu1361Lys | |
| ENST00000367248.7:c.3904G>A | ENSP00000356217.3:p.Glu1302Lys | |
| ENST00000367253.8:c.3934G>A | ENSP00000356222.4:p.Glu1312Lys | |
| ENST00000367255.9:c.3934G>A | ENSP00000356224.5:p.Glu1312Lys | |
| ENST00000413186.6:c.3934G>A | ENSP00000414510.2:p.Glu1312Lys | |
| ENST00000423061.5:c.3955G>A | ENSP00000396024.1:p.Glu1319Lys | |
| ENST00000461872.6:n.4152G>A | ||
| NM_033071.3:c.3955G>A | NP_149062.1:p.Glu1319Lys | |
| NM_182961.3:c.3934G>A | NP_892006.3:p.Glu1312Lys | |
| XM_006715407.1:c.3955G>A | XP_006715470.1:p.Glu1319Lys | |
| XM_006715408.1:c.3955G>A | XP_006715471.1:p.Glu1319Lys | |
| XM_006715409.1:c.3934G>A | XP_006715472.1:p.Glu1312Lys | |
| XM_006715410.1:c.3955G>A | XP_006715473.1:p.Glu1319Lys | |
| XM_006715411.1:c.3904G>A | XP_006715474.1:p.Glu1302Lys | |
| XM_006715412.1:c.3955G>A | XP_006715475.1:p.Glu1319Lys | |
| XM_006715413.1:c.3955G>A | XP_006715476.1:p.Glu1319Lys | |
| XM_006715414.1:c.3883G>A | XP_006715477.1:p.Glu1295Lys | |
| XM_006715415.1:c.3955G>A | XP_006715478.1:p.Glu1319Lys | |
| XM_006715416.1:c.3955G>A | XP_006715479.1:p.Glu1319Lys | |
| XM_006715417.1:c.3955G>A | XP_006715480.1:p.Glu1319Lys | |
| XM_006715420.1:c.3955G>A | XP_006715483.1:p.Glu1319Lys | |
| XM_006715421.1:c.3955G>A | XP_006715484.1:p.Glu1319Lys | |
| XM_006715422.1:c.3796G>A | XP_006715485.1:p.Glu1266Lys | |
| XM_006715423.1:c.3955G>A | XP_006715486.1:p.Glu1319Lys | |
| XM_006715424.1:c.3955G>A | XP_006715487.1:p.Glu1319Lys | |
| XM_006715425.1:c.3955G>A | XP_006715488.1:p.Glu1319Lys | |
| XM_011535641.1:c.3955G>A | XP_011533943.1:p.Glu1319Lys | |
| XM_011535642.1:c.3955G>A | XP_011533944.1:p.Glu1319Lys | |
| XM_011535643.1:c.3790G>A | XP_011533945.1:p.Glu1264Lys | |
| XM_011535644.1:c.2230G>A | XP_011533946.1:p.Glu744Lys | |
| XM_011535645.1:c.1723G>A | XP_011533947.1:p.Glu575Lys | |
| XM_011535646.1:c.3955G>A | XP_011533948.1:p.Glu1319Lys | |
| XM_006715408.2:c.3955G>A | XP_006715471.1:p.Glu1319Lys | |
| XM_006715410.2:c.3955G>A | XP_006715473.1:p.Glu1319Lys | |
| XM_006715412.2:c.3955G>A | XP_006715475.1:p.Glu1319Lys | |
| XM_006715413.2:c.3955G>A | XP_006715476.1:p.Glu1319Lys | |
| XM_006715415.2:c.3955G>A | XP_006715478.1:p.Glu1319Lys | |
| XM_006715416.2:c.3955G>A | XP_006715479.1:p.Glu1319Lys | |
| XM_006715417.2:c.3955G>A | XP_006715480.1:p.Glu1319Lys | |
| XM_006715420.2:c.3955G>A | XP_006715483.1:p.Glu1319Lys | |
| XM_006715421.2:c.3955G>A | XP_006715484.1:p.Glu1319Lys | |
| XM_006715423.2:c.3955G>A | XP_006715486.1:p.Glu1319Lys | |
| XM_006715424.2:c.3955G>A | XP_006715487.1:p.Glu1319Lys | |
| XM_006715425.2:c.3955G>A | XP_006715488.1:p.Glu1319Lys | |
| XM_011535641.2:c.3955G>A | XP_011533943.1:p.Glu1319Lys | |
| XM_011535642.2:c.3955G>A | XP_011533944.1:p.Glu1319Lys | |
| XM_011535645.2:c.1723G>A | XP_011533947.1:p.Glu575Lys | |
| XM_017010608.1:c.3955G>A | XP_016866097.1:p.Glu1319Lys | |
| XM_017010609.1:c.3955G>A | XP_016866098.1:p.Glu1319Lys | |
| XM_017010610.1:c.3934G>A | XP_016866099.1:p.Glu1312Lys | |
| XM_017010611.2:c.3928G>A | XP_016866100.1:p.Glu1310Lys | |
| XM_017010612.1:c.3877G>A | XP_016866101.1:p.Glu1293Lys | |
| XM_017010613.1:c.3955G>A | XP_016866102.1:p.Glu1319Lys | |
| XM_017010614.1:c.3955G>A | XP_016866103.1:p.Glu1319Lys | |
| XM_017010615.1:c.3955G>A | XP_016866104.1:p.Glu1319Lys | |
| XM_017010616.1:c.3955G>A | XP_016866105.1:p.Glu1319Lys | |
| XM_017010617.1:c.3955G>A | XP_016866106.1:p.Glu1319Lys | |
| XM_017010618.1:c.3955G>A | XP_016866107.1:p.Glu1319Lys | |
| XM_017010619.1:c.2230G>A | XP_016866108.1:p.Glu744Lys | |
| XR_001743287.1:n.4438G>A | ||
| NM_182961.4:c.3934G>A MANE Select | NP_892006.3:p.Glu1312Lys | |
| NM_033071.5:c.3955G>A | NP_149062.2:p.Glu1319Lys |