Linked Data
ClinVar Variation Id:
286315
dbSNP Id:
rs749509412
ExAC:
6:152780033 C / T
gnomAD v2:
6-152780033-C-T
gnomAD v3:
6-152458898-C-T
gnomAD v4:
6-152458898-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152458898C>T , CM000668.2:g.152458898C>T | GRCh38 |
| NC_000006.11:g.152780033C>T , CM000668.1:g.152780033C>T | GRCh37 |
| NC_000006.10:g.152821726C>T | NCBI36 |
| NG_012855.1:g.183502G>A | |
| NG_012855.2:g.183502G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.2427G>A MANE Select | ENSP00000356224.5:p.Glu809= | |
| ENST00000423061.6:c.2448G>A | ENSP00000396024.1:p.Glu816= | |
| ENST00000672122.1:c.2370G>A | ENSP00000500559.1:p.Glu790= | |
| ENST00000673163.1:c.*2397G>A | ENSP00000499934.1:n.*2397G>A | |
| ENST00000673281.1:c.2421G>A | ENSP00000500893.1:p.Glu807= | |
| ENST00000341594.9:c.2397G>A | ENSP00000341887.6:p.Glu799= | |
| ENST00000367248.7:c.2397G>A | ENSP00000356217.3:p.Glu799= | |
| ENST00000367253.8:c.2427G>A | ENSP00000356222.4:p.Glu809= | |
| ENST00000367255.9:c.2427G>A | ENSP00000356224.5:p.Glu809= | |
| ENST00000413186.6:c.2427G>A | ENSP00000414510.2:p.Glu809= | |
| ENST00000423061.5:c.2448G>A | ENSP00000396024.1:p.Glu816= | |
| ENST00000461872.6:n.2645G>A | ||
| ENST00000474655.6:c.1029G>A | ||
| ENST00000495090.6:c.1128G>A | ENSP00000438508.1:p.Glu376= | |
| ENST00000535896.6:n.1247G>A | ||
| NM_033071.3:c.2448G>A | NP_149062.1:p.Glu816= | |
| NM_182961.3:c.2427G>A | NP_892006.3:p.Glu809= | |
| XM_006715407.1:c.2448G>A | XP_006715470.1:p.Glu816= | |
| XM_006715408.1:c.2448G>A | XP_006715471.1:p.Glu816= | |
| XM_006715409.1:c.2427G>A | XP_006715472.1:p.Glu809= | |
| XM_006715410.1:c.2448G>A | XP_006715473.1:p.Glu816= | |
| XM_006715411.1:c.2397G>A | XP_006715474.1:p.Glu799= | |
| XM_006715412.1:c.2448G>A | XP_006715475.1:p.Glu816= | |
| XM_006715413.1:c.2448G>A | XP_006715476.1:p.Glu816= | |
| XM_006715414.1:c.2376G>A | XP_006715477.1:p.Glu792= | |
| XM_006715415.1:c.2448G>A | XP_006715478.1:p.Glu816= | |
| XM_006715416.1:c.2448G>A | XP_006715479.1:p.Glu816= | |
| XM_006715417.1:c.2448G>A | XP_006715480.1:p.Glu816= | |
| XM_006715420.1:c.2448G>A | XP_006715483.1:p.Glu816= | |
| XM_006715421.1:c.2448G>A | XP_006715484.1:p.Glu816= | |
| XM_006715422.1:c.2448G>A | XP_006715485.1:p.Glu816= | |
| XM_006715423.1:c.2448G>A | XP_006715486.1:p.Glu816= | |
| XM_006715424.1:c.2448G>A | XP_006715487.1:p.Glu816= | |
| XM_006715425.1:c.2448G>A | XP_006715488.1:p.Glu816= | |
| XM_011535641.1:c.2448G>A | XP_011533943.1:p.Glu816= | |
| XM_011535642.1:c.2448G>A | XP_011533944.1:p.Glu816= | |
| XM_011535643.1:c.2283G>A | XP_011533945.1:p.Glu761= | |
| XM_011535644.1:c.723G>A | XP_011533946.1:p.Glu241= | |
| XM_011535645.1:c.216G>A | XP_011533947.1:p.Glu72= | |
| XM_011535646.1:c.2448G>A | XP_011533948.1:p.Glu816= | |
| XM_006715408.2:c.2448G>A | XP_006715471.1:p.Glu816= | |
| XM_006715410.2:c.2448G>A | XP_006715473.1:p.Glu816= | |
| XM_006715412.2:c.2448G>A | XP_006715475.1:p.Glu816= | |
| XM_006715413.2:c.2448G>A | XP_006715476.1:p.Glu816= | |
| XM_006715415.2:c.2448G>A | XP_006715478.1:p.Glu816= | |
| XM_006715416.2:c.2448G>A | XP_006715479.1:p.Glu816= | |
| XM_006715417.2:c.2448G>A | XP_006715480.1:p.Glu816= | |
| XM_006715420.2:c.2448G>A | XP_006715483.1:p.Glu816= | |
| XM_006715421.2:c.2448G>A | XP_006715484.1:p.Glu816= | |
| XM_006715423.2:c.2448G>A | XP_006715486.1:p.Glu816= | |
| XM_006715424.2:c.2448G>A | XP_006715487.1:p.Glu816= | |
| XM_006715425.2:c.2448G>A | XP_006715488.1:p.Glu816= | |
| XM_011535641.2:c.2448G>A | XP_011533943.1:p.Glu816= | |
| XM_011535642.2:c.2448G>A | XP_011533944.1:p.Glu816= | |
| XM_011535645.2:c.216G>A | XP_011533947.1:p.Glu72= | |
| XM_017010608.1:c.2448G>A | XP_016866097.1:p.Glu816= | |
| XM_017010609.1:c.2448G>A | XP_016866098.1:p.Glu816= | |
| XM_017010610.1:c.2427G>A | XP_016866099.1:p.Glu809= | |
| XM_017010611.2:c.2421G>A | XP_016866100.1:p.Glu807= | |
| XM_017010612.1:c.2370G>A | XP_016866101.1:p.Glu790= | |
| XM_017010613.1:c.2448G>A | XP_016866102.1:p.Glu816= | |
| XM_017010614.1:c.2448G>A | XP_016866103.1:p.Glu816= | |
| XM_017010615.1:c.2448G>A | XP_016866104.1:p.Glu816= | |
| XM_017010616.1:c.2448G>A | XP_016866105.1:p.Glu816= | |
| XM_017010617.1:c.2448G>A | XP_016866106.1:p.Glu816= | |
| XM_017010618.1:c.2448G>A | XP_016866107.1:p.Glu816= | |
| XM_017010619.1:c.723G>A | XP_016866108.1:p.Glu241= | |
| XR_001743287.1:n.2931G>A | ||
| NM_182961.4:c.2427G>A MANE Select | NP_892006.3:p.Glu809= | |
| NM_033071.5:c.2448G>A | NP_149062.2:p.Glu816= |