Linked Data
ClinVar Variation Id:
2180496
ClinVar RCV Id:
RCV002619280
dbSNP Id:
rs371156347
ExAC:
6:152473103 G / A
gnomAD v2:
6-152473103-G-A
gnomAD v3:
6-152151968-G-A
gnomAD v4:
6-152151968-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152151968G>A , CM000668.2:g.152151968G>A | GRCh38 |
| NC_000006.11:g.152473103G>A , CM000668.1:g.152473103G>A | GRCh37 |
| NC_000006.10:g.152514796G>A | NCBI36 |
| NG_012855.1:g.490432C>T | |
| NG_012855.2:g.490432C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.768C>T MANE Plus Clinical | ENSP00000346701.4:p.Arg256= | |
| ENST00000367255.10:c.24303C>T MANE Select | ENSP00000356224.5:p.Arg8101= | |
| ENST00000423061.6:c.24090C>T | ENSP00000396024.1:p.Arg8030= | |
| ENST00000672169.1:c.38C>T | ||
| ENST00000673173.1:c.217C>T | ||
| ENST00000673451.1:c.75C>T | ENSP00000500189.1:p.Arg25= | |
| ENST00000341594.9:c.23088C>T | ENSP00000341887.6:p.Arg7696= | |
| ENST00000347037.9:n.982C>T | ||
| ENST00000354674.4:c.768C>T | ENSP00000346701.4:p.Arg256= | |
| ENST00000367251.7:c.3069C>T | ENSP00000356220.3:p.Arg1023= | |
| ENST00000367255.9:c.24303C>T | ENSP00000356224.5:p.Arg8101= | |
| ENST00000367256.9:n.7995C>T | ||
| ENST00000367257.8:c.2241C>T | ENSP00000356226.4:p.Arg747= | |
| ENST00000409694.6:n.7887C>T | ||
| ENST00000423061.5:c.24090C>T | ENSP00000396024.1:p.Arg8030= | |
| ENST00000460912.6:n.848C>T | ||
| ENST00000476519.1:n.365C>T | ||
| ENST00000536990.5:n.1140C>T | ||
| ENST00000539504.5:c.768C>T | ENSP00000441052.1:p.Arg256= | |
| NM_033071.3:c.24090C>T | NP_149062.1:p.Arg8030= | |
| NM_182961.3:c.24303C>T | NP_892006.3:p.Arg8101= | |
| XM_006715407.1:c.24339C>T | XP_006715470.1:p.Arg8113= | |
| XM_006715408.1:c.24327C>T | XP_006715471.1:p.Arg8109= | |
| XM_006715409.1:c.24318C>T | XP_006715472.1:p.Arg8106= | |
| XM_006715410.1:c.24339C>T | XP_006715473.1:p.Arg8113= | |
| XM_006715411.1:c.24288C>T | XP_006715474.1:p.Arg8096= | |
| XM_006715412.1:c.24324C>T | XP_006715475.1:p.Arg8108= | |
| XM_006715413.1:c.24339C>T | XP_006715476.1:p.Arg8113= | |
| XM_006715414.1:c.24267C>T | XP_006715477.1:p.Arg8089= | |
| XM_006715415.1:c.24339C>T | XP_006715478.1:p.Arg8113= | |
| XM_006715416.1:c.24324C>T | XP_006715479.1:p.Arg8108= | |
| XM_006715417.1:c.24198C>T | XP_006715480.1:p.Arg8066= | |
| XM_006715420.1:c.24186C>T | XP_006715483.1:p.Arg8062= | |
| XM_006715421.1:c.24183C>T | XP_006715484.1:p.Arg8061= | |
| XM_006715422.1:c.24180C>T | XP_006715485.1:p.Arg8060= | |
| XM_006715423.1:c.24339C>T | XP_006715486.1:p.Arg8113= | |
| XM_006715424.1:c.24339C>T | XP_006715487.1:p.Arg8113= | |
| XM_006715425.1:c.24339C>T | XP_006715488.1:p.Arg8113= | |
| XM_011535641.1:c.24336C>T | XP_011533943.1:p.Arg8112= | |
| XM_011535642.1:c.24324C>T | XP_011533944.1:p.Arg8108= | |
| XM_011535643.1:c.24174C>T | XP_011533945.1:p.Arg8058= | |
| XM_011535644.1:c.22614C>T | XP_011533946.1:p.Arg7538= | |
| XM_011535645.1:c.22107C>T | XP_011533947.1:p.Arg7369= | |
| XM_011535647.1:c.17574C>T | XP_011533949.1:p.Arg5858= | |
| NM_001347701.1:c.909C>T | NP_001334630.1:p.Arg303= | |
| NM_001347702.1:c.768C>T | NP_001334631.1:p.Arg256= | |
| XM_006715408.2:c.24327C>T | XP_006715471.1:p.Arg8109= | |
| XM_006715410.2:c.24339C>T | XP_006715473.1:p.Arg8113= | |
| XM_006715412.2:c.24324C>T | XP_006715475.1:p.Arg8108= | |
| XM_006715413.2:c.24339C>T | XP_006715476.1:p.Arg8113= | |
| XM_006715415.2:c.24339C>T | XP_006715478.1:p.Arg8113= | |
| XM_006715416.2:c.24324C>T | XP_006715479.1:p.Arg8108= | |
| XM_006715417.2:c.24198C>T | XP_006715480.1:p.Arg8066= | |
| XM_006715420.2:c.24186C>T | XP_006715483.1:p.Arg8062= | |
| XM_006715421.2:c.24183C>T | XP_006715484.1:p.Arg8061= | |
| XM_006715423.2:c.24339C>T | XP_006715486.1:p.Arg8113= | |
| XM_006715424.2:c.24339C>T | XP_006715487.1:p.Arg8113= | |
| XM_006715425.2:c.24339C>T | XP_006715488.1:p.Arg8113= | |
| XM_011535641.2:c.24336C>T | XP_011533943.1:p.Arg8112= | |
| XM_011535642.2:c.24324C>T | XP_011533944.1:p.Arg8108= | |
| XM_011535645.2:c.22107C>T | XP_011533947.1:p.Arg7369= | |
| XM_017010608.1:c.24339C>T | XP_016866097.1:p.Arg8113= | |
| XM_017010609.1:c.24339C>T | XP_016866098.1:p.Arg8113= | |
| XM_017010610.1:c.24318C>T | XP_016866099.1:p.Arg8106= | |
| XM_017010611.2:c.24312C>T | XP_016866100.1:p.Arg8104= | |
| XM_017010612.1:c.24261C>T | XP_016866101.1:p.Arg8087= | |
| XM_017010613.1:c.24336C>T | XP_016866102.1:p.Arg8112= | |
| XM_017010614.1:c.24183C>T | XP_016866103.1:p.Arg8061= | |
| XM_017010615.1:c.24183C>T | XP_016866104.1:p.Arg8061= | |
| XM_017010616.1:c.24339C>T | XP_016866105.1:p.Arg8113= | |
| XM_017010617.1:c.24336C>T | XP_016866106.1:p.Arg8112= | |
| XM_017010618.1:c.24324C>T | XP_016866107.1:p.Arg8108= | |
| XM_017010619.1:c.22614C>T | XP_016866108.1:p.Arg7538= | |
| NM_182961.4:c.24303C>T MANE Select | NP_892006.3:p.Arg8101= | |
| NM_001347701.2:c.909C>T | NP_001334630.1:p.Arg303= | |
| NM_001347702.2:c.768C>T MANE Plus Clinical | NP_001334631.1:p.Arg256= | |
| NM_033071.5:c.24090C>T | NP_149062.2:p.Arg8030= |