Linked Data
ClinVar Variation Id:
242515
dbSNP Id:
rs780451185
ExAC:
6:152557375 G / A
gnomAD v2:
6-152557375-G-A
gnomAD v3:
6-152236240-G-A
gnomAD v4:
6-152236240-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152236240G>A , CM000668.2:g.152236240G>A | GRCh38 |
| NC_000006.11:g.152557375G>A , CM000668.1:g.152557375G>A | GRCh37 |
| NC_000006.10:g.152599068G>A | NCBI36 |
| NG_012855.1:g.406160C>T | |
| NG_012855.2:g.406160C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.20263C>T MANE Select | ENSP00000356224.5:p.Arg6755Ter | |
| ENST00000423061.6:c.20050C>T | ENSP00000396024.1:p.Arg6684Ter | |
| ENST00000341594.9:c.19048C>T | ENSP00000341887.6:p.Arg6350Ter | |
| ENST00000367255.9:c.20263C>T | ENSP00000356224.5:p.Arg6755Ter | |
| ENST00000367256.9:n.3955C>T | ||
| ENST00000409694.6:n.3847C>T | ||
| ENST00000423061.5:c.20050C>T | ENSP00000396024.1:p.Arg6684Ter | |
| NM_033071.3:c.20050C>T | NP_149062.1:p.Arg6684Ter | |
| NM_182961.3:c.20263C>T | NP_892006.3:p.Arg6755Ter | |
| XM_006715407.1:c.20299C>T | XP_006715470.1:p.Arg6767Ter | |
| XM_006715408.1:c.20287C>T | XP_006715471.1:p.Arg6763Ter | |
| XM_006715409.1:c.20278C>T | XP_006715472.1:p.Arg6760Ter | |
| XM_006715410.1:c.20299C>T | XP_006715473.1:p.Arg6767Ter | |
| XM_006715411.1:c.20248C>T | XP_006715474.1:p.Arg6750Ter | |
| XM_006715412.1:c.20284C>T | XP_006715475.1:p.Arg6762Ter | |
| XM_006715413.1:c.20299C>T | XP_006715476.1:p.Arg6767Ter | |
| XM_006715414.1:c.20227C>T | XP_006715477.1:p.Arg6743Ter | |
| XM_006715415.1:c.20299C>T | XP_006715478.1:p.Arg6767Ter | |
| XM_006715416.1:c.20284C>T | XP_006715479.1:p.Arg6762Ter | |
| XM_006715417.1:c.20158C>T | XP_006715480.1:p.Arg6720Ter | |
| XM_006715420.1:c.20146C>T | XP_006715483.1:p.Arg6716Ter | |
| XM_006715421.1:c.20143C>T | XP_006715484.1:p.Arg6715Ter | |
| XM_006715422.1:c.20140C>T | XP_006715485.1:p.Arg6714Ter | |
| XM_006715423.1:c.20299C>T | XP_006715486.1:p.Arg6767Ter | |
| XM_006715424.1:c.20299C>T | XP_006715487.1:p.Arg6767Ter | |
| XM_006715425.1:c.20299C>T | XP_006715488.1:p.Arg6767Ter | |
| XM_011535641.1:c.20296C>T | XP_011533943.1:p.Arg6766Ter | |
| XM_011535642.1:c.20284C>T | XP_011533944.1:p.Arg6762Ter | |
| XM_011535643.1:c.20134C>T | XP_011533945.1:p.Arg6712Ter | |
| XM_011535644.1:c.18574C>T | XP_011533946.1:p.Arg6192Ter | |
| XM_011535645.1:c.18067C>T | XP_011533947.1:p.Arg6023Ter | |
| XM_011535647.1:c.13534C>T | XP_011533949.1:p.Arg4512Ter | |
| XM_006715408.2:c.20287C>T | XP_006715471.1:p.Arg6763Ter | |
| XM_006715410.2:c.20299C>T | XP_006715473.1:p.Arg6767Ter | |
| XM_006715412.2:c.20284C>T | XP_006715475.1:p.Arg6762Ter | |
| XM_006715413.2:c.20299C>T | XP_006715476.1:p.Arg6767Ter | |
| XM_006715415.2:c.20299C>T | XP_006715478.1:p.Arg6767Ter | |
| XM_006715416.2:c.20284C>T | XP_006715479.1:p.Arg6762Ter | |
| XM_006715417.2:c.20158C>T | XP_006715480.1:p.Arg6720Ter | |
| XM_006715420.2:c.20146C>T | XP_006715483.1:p.Arg6716Ter | |
| XM_006715421.2:c.20143C>T | XP_006715484.1:p.Arg6715Ter | |
| XM_006715423.2:c.20299C>T | XP_006715486.1:p.Arg6767Ter | |
| XM_006715424.2:c.20299C>T | XP_006715487.1:p.Arg6767Ter | |
| XM_006715425.2:c.20299C>T | XP_006715488.1:p.Arg6767Ter | |
| XM_011535641.2:c.20296C>T | XP_011533943.1:p.Arg6766Ter | |
| XM_011535642.2:c.20284C>T | XP_011533944.1:p.Arg6762Ter | |
| XM_011535645.2:c.18067C>T | XP_011533947.1:p.Arg6023Ter | |
| XM_017010608.1:c.20299C>T | XP_016866097.1:p.Arg6767Ter | |
| XM_017010609.1:c.20299C>T | XP_016866098.1:p.Arg6767Ter | |
| XM_017010610.1:c.20278C>T | XP_016866099.1:p.Arg6760Ter | |
| XM_017010611.2:c.20272C>T | XP_016866100.1:p.Arg6758Ter | |
| XM_017010612.1:c.20221C>T | XP_016866101.1:p.Arg6741Ter | |
| XM_017010613.1:c.20296C>T | XP_016866102.1:p.Arg6766Ter | |
| XM_017010614.1:c.20143C>T | XP_016866103.1:p.Arg6715Ter | |
| XM_017010615.1:c.20143C>T | XP_016866104.1:p.Arg6715Ter | |
| XM_017010616.1:c.20299C>T | XP_016866105.1:p.Arg6767Ter | |
| XM_017010617.1:c.20296C>T | XP_016866106.1:p.Arg6766Ter | |
| XM_017010618.1:c.20284C>T | XP_016866107.1:p.Arg6762Ter | |
| XM_017010619.1:c.18574C>T | XP_016866108.1:p.Arg6192Ter | |
| NM_182961.4:c.20263C>T MANE Select | NP_892006.3:p.Arg6755Ter | |
| NM_033071.5:c.20050C>T | NP_149062.2:p.Arg6684Ter |