Linked Data
ClinVar Variation Id:
448575
dbSNP Id:
rs138032057
ExAC:
6:152542057 G / T
gnomAD v2:
6-152542057-G-T
gnomAD v3:
6-152220922-G-T
gnomAD v4:
6-152220922-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152220922G>T , CM000668.2:g.152220922G>T | GRCh38 |
| NC_000006.11:g.152542057G>T , CM000668.1:g.152542057G>T | GRCh37 |
| NC_000006.10:g.152583750G>T | NCBI36 |
| NG_012855.1:g.421478C>A | |
| NG_012855.2:g.421478C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.21781C>A MANE Select | ENSP00000356224.5:p.Arg7261= | |
| ENST00000423061.6:c.21568C>A | ENSP00000396024.1:p.Arg7190= | |
| ENST00000341594.9:c.20566C>A | ENSP00000341887.6:p.Arg6856= | |
| ENST00000367251.7:c.547C>A | ENSP00000356220.3:p.Arg183= | |
| ENST00000367255.9:c.21781C>A | ENSP00000356224.5:p.Arg7261= | |
| ENST00000367256.9:n.5473C>A | ||
| ENST00000409694.6:n.5365C>A | ||
| ENST00000423061.5:c.21568C>A | ENSP00000396024.1:p.Arg7190= | |
| NM_033071.3:c.21568C>A | NP_149062.1:p.Arg7190= | |
| NM_182961.3:c.21781C>A | NP_892006.3:p.Arg7261= | |
| XM_006715407.1:c.21817C>A | XP_006715470.1:p.Arg7273= | |
| XM_006715408.1:c.21805C>A | XP_006715471.1:p.Arg7269= | |
| XM_006715409.1:c.21796C>A | XP_006715472.1:p.Arg7266= | |
| XM_006715410.1:c.21817C>A | XP_006715473.1:p.Arg7273= | |
| XM_006715411.1:c.21766C>A | XP_006715474.1:p.Arg7256= | |
| XM_006715412.1:c.21802C>A | XP_006715475.1:p.Arg7268= | |
| XM_006715413.1:c.21817C>A | XP_006715476.1:p.Arg7273= | |
| XM_006715414.1:c.21745C>A | XP_006715477.1:p.Arg7249= | |
| XM_006715415.1:c.21817C>A | XP_006715478.1:p.Arg7273= | |
| XM_006715416.1:c.21802C>A | XP_006715479.1:p.Arg7268= | |
| XM_006715417.1:c.21676C>A | XP_006715480.1:p.Arg7226= | |
| XM_006715420.1:c.21664C>A | XP_006715483.1:p.Arg7222= | |
| XM_006715421.1:c.21661C>A | XP_006715484.1:p.Arg7221= | |
| XM_006715422.1:c.21658C>A | XP_006715485.1:p.Arg7220= | |
| XM_006715423.1:c.21817C>A | XP_006715486.1:p.Arg7273= | |
| XM_006715424.1:c.21817C>A | XP_006715487.1:p.Arg7273= | |
| XM_006715425.1:c.21817C>A | XP_006715488.1:p.Arg7273= | |
| XM_011535641.1:c.21814C>A | XP_011533943.1:p.Arg7272= | |
| XM_011535642.1:c.21802C>A | XP_011533944.1:p.Arg7268= | |
| XM_011535643.1:c.21652C>A | XP_011533945.1:p.Arg7218= | |
| XM_011535644.1:c.20092C>A | XP_011533946.1:p.Arg6698= | |
| XM_011535645.1:c.19585C>A | XP_011533947.1:p.Arg6529= | |
| XM_011535647.1:c.15052C>A | XP_011533949.1:p.Arg5018= | |
| XM_006715408.2:c.21805C>A | XP_006715471.1:p.Arg7269= | |
| XM_006715410.2:c.21817C>A | XP_006715473.1:p.Arg7273= | |
| XM_006715412.2:c.21802C>A | XP_006715475.1:p.Arg7268= | |
| XM_006715413.2:c.21817C>A | XP_006715476.1:p.Arg7273= | |
| XM_006715415.2:c.21817C>A | XP_006715478.1:p.Arg7273= | |
| XM_006715416.2:c.21802C>A | XP_006715479.1:p.Arg7268= | |
| XM_006715417.2:c.21676C>A | XP_006715480.1:p.Arg7226= | |
| XM_006715420.2:c.21664C>A | XP_006715483.1:p.Arg7222= | |
| XM_006715421.2:c.21661C>A | XP_006715484.1:p.Arg7221= | |
| XM_006715423.2:c.21817C>A | XP_006715486.1:p.Arg7273= | |
| XM_006715424.2:c.21817C>A | XP_006715487.1:p.Arg7273= | |
| XM_006715425.2:c.21817C>A | XP_006715488.1:p.Arg7273= | |
| XM_011535641.2:c.21814C>A | XP_011533943.1:p.Arg7272= | |
| XM_011535642.2:c.21802C>A | XP_011533944.1:p.Arg7268= | |
| XM_011535645.2:c.19585C>A | XP_011533947.1:p.Arg6529= | |
| XM_017010608.1:c.21817C>A | XP_016866097.1:p.Arg7273= | |
| XM_017010609.1:c.21817C>A | XP_016866098.1:p.Arg7273= | |
| XM_017010610.1:c.21796C>A | XP_016866099.1:p.Arg7266= | |
| XM_017010611.2:c.21790C>A | XP_016866100.1:p.Arg7264= | |
| XM_017010612.1:c.21739C>A | XP_016866101.1:p.Arg7247= | |
| XM_017010613.1:c.21814C>A | XP_016866102.1:p.Arg7272= | |
| XM_017010614.1:c.21661C>A | XP_016866103.1:p.Arg7221= | |
| XM_017010615.1:c.21661C>A | XP_016866104.1:p.Arg7221= | |
| XM_017010616.1:c.21817C>A | XP_016866105.1:p.Arg7273= | |
| XM_017010617.1:c.21814C>A | XP_016866106.1:p.Arg7272= | |
| XM_017010618.1:c.21802C>A | XP_016866107.1:p.Arg7268= | |
| XM_017010619.1:c.20092C>A | XP_016866108.1:p.Arg6698= | |
| NM_182961.4:c.21781C>A MANE Select | NP_892006.3:p.Arg7261= | |
| NM_033071.5:c.21568C>A | NP_149062.2:p.Arg7190= |