Linked Data
ClinVar Variation Id:
355827
dbSNP Id:
rs146907132
ExAC:
6:152540166 G / T
gnomAD v2:
6-152540166-G-T
gnomAD v3:
6-152219031-G-T
gnomAD v4:
6-152219031-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152219031G>T , CM000668.2:g.152219031G>T | GRCh38 |
| NC_000006.11:g.152540166G>T , CM000668.1:g.152540166G>T | GRCh37 |
| NC_000006.10:g.152581859G>T | NCBI36 |
| NG_012855.1:g.423369C>A | |
| NG_012855.2:g.423369C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.22016C>A MANE Select | ENSP00000356224.5:p.Ala7339Asp | |
| ENST00000423061.6:c.21803C>A | ENSP00000396024.1:p.Ala7268Asp | |
| ENST00000341594.9:c.20801C>A | ENSP00000341887.6:p.Ala6934Asp | |
| ENST00000367251.7:c.782C>A | ENSP00000356220.3:p.Ala261Asp | |
| ENST00000367255.9:c.22016C>A | ENSP00000356224.5:p.Ala7339Asp | |
| ENST00000367256.9:n.5708C>A | ||
| ENST00000409694.6:n.5600C>A | ||
| ENST00000423061.5:c.21803C>A | ENSP00000396024.1:p.Ala7268Asp | |
| NM_033071.3:c.21803C>A | NP_149062.1:p.Ala7268Asp | |
| NM_182961.3:c.22016C>A | NP_892006.3:p.Ala7339Asp | |
| XM_006715407.1:c.22052C>A | XP_006715470.1:p.Ala7351Asp | |
| XM_006715408.1:c.22040C>A | XP_006715471.1:p.Ala7347Asp | |
| XM_006715409.1:c.22031C>A | XP_006715472.1:p.Ala7344Asp | |
| XM_006715410.1:c.22052C>A | XP_006715473.1:p.Ala7351Asp | |
| XM_006715411.1:c.22001C>A | XP_006715474.1:p.Ala7334Asp | |
| XM_006715412.1:c.22037C>A | XP_006715475.1:p.Ala7346Asp | |
| XM_006715413.1:c.22052C>A | XP_006715476.1:p.Ala7351Asp | |
| XM_006715414.1:c.21980C>A | XP_006715477.1:p.Ala7327Asp | |
| XM_006715415.1:c.22052C>A | XP_006715478.1:p.Ala7351Asp | |
| XM_006715416.1:c.22037C>A | XP_006715479.1:p.Ala7346Asp | |
| XM_006715417.1:c.21911C>A | XP_006715480.1:p.Ala7304Asp | |
| XM_006715420.1:c.21899C>A | XP_006715483.1:p.Ala7300Asp | |
| XM_006715421.1:c.21896C>A | XP_006715484.1:p.Ala7299Asp | |
| XM_006715422.1:c.21893C>A | XP_006715485.1:p.Ala7298Asp | |
| XM_006715423.1:c.22052C>A | XP_006715486.1:p.Ala7351Asp | |
| XM_006715424.1:c.22052C>A | XP_006715487.1:p.Ala7351Asp | |
| XM_006715425.1:c.22052C>A | XP_006715488.1:p.Ala7351Asp | |
| XM_011535641.1:c.22049C>A | XP_011533943.1:p.Ala7350Asp | |
| XM_011535642.1:c.22037C>A | XP_011533944.1:p.Ala7346Asp | |
| XM_011535643.1:c.21887C>A | XP_011533945.1:p.Ala7296Asp | |
| XM_011535644.1:c.20327C>A | XP_011533946.1:p.Ala6776Asp | |
| XM_011535645.1:c.19820C>A | XP_011533947.1:p.Ala6607Asp | |
| XM_011535647.1:c.15287C>A | XP_011533949.1:p.Ala5096Asp | |
| XM_006715408.2:c.22040C>A | XP_006715471.1:p.Ala7347Asp | |
| XM_006715410.2:c.22052C>A | XP_006715473.1:p.Ala7351Asp | |
| XM_006715412.2:c.22037C>A | XP_006715475.1:p.Ala7346Asp | |
| XM_006715413.2:c.22052C>A | XP_006715476.1:p.Ala7351Asp | |
| XM_006715415.2:c.22052C>A | XP_006715478.1:p.Ala7351Asp | |
| XM_006715416.2:c.22037C>A | XP_006715479.1:p.Ala7346Asp | |
| XM_006715417.2:c.21911C>A | XP_006715480.1:p.Ala7304Asp | |
| XM_006715420.2:c.21899C>A | XP_006715483.1:p.Ala7300Asp | |
| XM_006715421.2:c.21896C>A | XP_006715484.1:p.Ala7299Asp | |
| XM_006715423.2:c.22052C>A | XP_006715486.1:p.Ala7351Asp | |
| XM_006715424.2:c.22052C>A | XP_006715487.1:p.Ala7351Asp | |
| XM_006715425.2:c.22052C>A | XP_006715488.1:p.Ala7351Asp | |
| XM_011535641.2:c.22049C>A | XP_011533943.1:p.Ala7350Asp | |
| XM_011535642.2:c.22037C>A | XP_011533944.1:p.Ala7346Asp | |
| XM_011535645.2:c.19820C>A | XP_011533947.1:p.Ala6607Asp | |
| XM_017010608.1:c.22052C>A | XP_016866097.1:p.Ala7351Asp | |
| XM_017010609.1:c.22052C>A | XP_016866098.1:p.Ala7351Asp | |
| XM_017010610.1:c.22031C>A | XP_016866099.1:p.Ala7344Asp | |
| XM_017010611.2:c.22025C>A | XP_016866100.1:p.Ala7342Asp | |
| XM_017010612.1:c.21974C>A | XP_016866101.1:p.Ala7325Asp | |
| XM_017010613.1:c.22049C>A | XP_016866102.1:p.Ala7350Asp | |
| XM_017010614.1:c.21896C>A | XP_016866103.1:p.Ala7299Asp | |
| XM_017010615.1:c.21896C>A | XP_016866104.1:p.Ala7299Asp | |
| XM_017010616.1:c.22052C>A | XP_016866105.1:p.Ala7351Asp | |
| XM_017010617.1:c.22049C>A | XP_016866106.1:p.Ala7350Asp | |
| XM_017010618.1:c.22037C>A | XP_016866107.1:p.Ala7346Asp | |
| XM_017010619.1:c.20327C>A | XP_016866108.1:p.Ala6776Asp | |
| NM_182961.4:c.22016C>A MANE Select | NP_892006.3:p.Ala7339Asp | |
| NM_033071.5:c.21803C>A | NP_149062.2:p.Ala7268Asp |