Linked Data
ClinVar Variation Id:
161617
dbSNP Id:
rs193920974
ExAC:
5:77437091 C / T
gnomAD v2:
5-77437091-C-T
gnomAD v4:
5-78141267-C-T
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78141267C>T , CM000667.2:g.78141267C>T | GRCh38 |
| NC_000005.9:g.77437091C>T , CM000667.1:g.77437091C>T | GRCh37 |
| NC_000005.8:g.77472847C>T | NCBI36 |
| NG_007268.1:g.158438G>A , LRG_170:g.158438G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517561.2:c.1526G>A | ENSP00000511839.1:p.Arg509Gln | |
| ENST00000517940.2:c.1526G>A | ENSP00000511881.1:p.Arg509Gln | |
| ENST00000519295.6:c.1379G>A | ENSP00000430597.1:p.Arg460Gln | |
| ENST00000519888.6:c.1526G>A | ENSP00000511880.1:p.Arg509Gln | |
| ENST00000695447.1:c.1526G>A | ENSP00000511917.1:p.Arg509Gln | |
| ENST00000695450.1:c.1168-25033G>A | ENSP00000511919.1:n.1168-25033G>A | |
| ENST00000695451.1:c.*1292G>A | ENSP00000511920.1:n.*1292G>A | |
| ENST00000695453.1:c.1526G>A | ENSP00000511921.1:p.Arg509Gln | |
| ENST00000695454.1:c.1520G>A | ENSP00000511922.1:p.Arg507Gln | |
| ENST00000695455.1:c.1379G>A | ENSP00000511923.1:p.Arg460Gln | |
| ENST00000695488.1:c.1526G>A | ENSP00000511959.1:p.Arg509Gln | |
| ENST00000695505.1:n.1684G>A | ||
| ENST00000695507.1:c.1526G>A | ENSP00000511970.1:p.Arg509Gln | |
| ENST00000695510.1:c.1526G>A | ENSP00000511973.1:p.Arg509Gln | |
| ENST00000695511.1:c.1526G>A | ENSP00000511974.1:p.Arg509Gln | |
| ENST00000695512.1:c.1526G>A | ENSP00000511975.1:p.Arg509Gln | |
| ENST00000695513.1:c.1391G>A | ENSP00000511976.1:p.Arg464Gln | |
| ENST00000695514.1:c.1526G>A | ENSP00000511977.1:p.Arg509Gln | |
| ENST00000695515.1:c.1526G>A | ENSP00000511978.1:p.Arg509Gln | |
| ENST00000255194.11:c.1526G>A MANE Select | ENSP00000255194.7:p.Arg509Gln | |
| ENST00000255194.10:c.1526G>A | ENSP00000255194.6:p.Arg509Gln | |
| ENST00000519295.5:c.1379G>A | ENSP00000430597.1:p.Arg460Gln | |
| NM_001271769.1:c.1379G>A | NP_001258698.1:p.Arg460Gln | |
| NM_003664.4:c.1526G>A , LRG_170t1:c.1526G>A | NP_003655.3:p.Arg509Gln | |
| XM_005248618.2:c.1526G>A | XP_005248675.1:p.Arg509Gln | |
| XM_005248619.3:c.1526G>A | XP_005248676.1:p.Arg509Gln | |
| XM_005248618.4:c.1526G>A | XP_005248675.1:p.Arg509Gln | |
| XM_005248619.5:c.1526G>A | XP_005248676.1:p.Arg509Gln | |
| XM_017010001.1:c.1379G>A | XP_016865490.1:p.Arg460Gln | |
| NM_001271769.2:c.1379G>A | NP_001258698.1:p.Arg460Gln | |
| NM_003664.5:c.1526G>A MANE Select | NP_003655.3:p.Arg509Gln |