Linked Data
ClinVar Variation Id:
499993
dbSNP Id:
rs373121544
ExAC:
11:71150086 C / T
gnomAD v2:
11-71150086-C-T
gnomAD v3:
11-71439040-C-T
gnomAD v4:
11-71439040-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71439040C>T , CM000673.2:g.71439040C>T | GRCh38 |
| NC_000011.9:g.71150086C>T , CM000673.1:g.71150086C>T | GRCh37 |
| NC_000011.8:g.70827734C>T | NCBI36 |
| NG_012655.2:g.14392G>A , LRG_340:g.14392G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.670G>A | ENSP00000435707.3:p.Glu224Lys | |
| ENST00000526780.6:c.670G>A | ENSP00000435668.2:p.Glu224Lys | |
| ENST00000527316.6:c.496G>A | ENSP00000435047.2:p.Glu166Lys | |
| ENST00000682708.1:c.721G>A | ENSP00000506866.1:p.Glu241Lys | |
| ENST00000682880.1:c.670G>A | ENSP00000507520.1:p.Glu224Lys | |
| ENST00000683287.1:c.706G>A | ENSP00000507607.1:p.Glu236Lys | |
| ENST00000683714.1:c.670G>A | ENSP00000508207.1:p.Glu224Lys | |
| ENST00000684396.1:n.710G>A | ||
| ENST00000685320.1:c.85G>A | ENSP00000509319.1:p.Glu29Lys | |
| ENST00000690257.1:c.574G>A | ENSP00000510750.1:p.Glu192Lys | |
| ENST00000355527.8:c.670G>A MANE Select | ENSP00000347717.4:p.Glu224Lys | |
| ENST00000355527.7:c.670G>A | ENSP00000347717.3:p.Glu224Lys | |
| ENST00000407721.6:c.670G>A | ENSP00000384739.2:p.Glu224Lys | |
| ENST00000525137.1:c.37G>A | ENSP00000435956.1:p.Glu13Lys | |
| ENST00000527316.5:c.574G>A | ENSP00000435047.1:p.Glu192Lys | |
| ENST00000534701.1:n.165G>A | ||
| ENST00000534795.5:c.26G>A | ||
| NM_001163817.1:c.670G>A | NP_001157289.1:p.Glu224Lys | |
| NM_001360.2:c.670G>A , LRG_340t1:c.670G>A | NP_001351.2:p.Glu224Lys | |
| XM_011544777.1:c.670G>A | XP_011543079.1:p.Glu224Lys | |
| XM_011544777.2:c.670G>A | XP_011543079.1:p.Glu224Lys | |
| NM_001163817.2:c.670G>A | NP_001157289.1:p.Glu224Lys | |
| NM_001360.3:c.670G>A MANE Select | NP_001351.2:p.Glu224Lys |