Linked Data
dbSNP Id:
rs771086015
ExAC:
5:10256183 A / G
gnomAD v2:
5-10256183-A-G
gnomAD v3:
5-10256071-A-G
gnomAD v4:
5-10256071-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10256071A>G , CM000667.2:g.10256071A>G | GRCh38 |
| NC_000005.9:g.10256183A>G , CM000667.1:g.10256183A>G | GRCh37 |
| NC_000005.8:g.10309183A>G | NCBI36 |
| NG_012160.1:g.10902A>G , LRG_361:g.10902A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280326.9:c.448A>G MANE Select | ENSP00000280326.4:p.Lys150Glu | |
| ENST00000280326.8:c.448A>G | ENSP00000280326.4:p.Lys150Glu | |
| ENST00000423695.6:n.128-2040A>G | ||
| ENST00000503026.5:c.385A>G | ENSP00000423318.1:p.Lys129Glu | |
| ENST00000503454.5:c.337A>G | ||
| ENST00000506600.1:c.169A>G | ENSP00000423052.1:p.Lys57Glu | |
| ENST00000511700.1:c.363A>G | ENSP00000423087.1:n.363A>G | |
| ENST00000512975.5:c.106-2040A>G | ENSP00000425751.1:n.106-2040A>G | |
| ENST00000515390.5:c.283A>G | ENSP00000426923.1:p.Lys95Glu | |
| ENST00000515676.5:c.334A>G | ENSP00000427297.1:p.Lys112Glu | |
| ENST00000625723.1:c.106-2040A>G | ENSP00000487128.1:n.106-2040A>G | |
| NM_001306153.1:c.385A>G | NP_001293082.1:p.Lys129Glu | |
| NM_001306154.1:c.283A>G | NP_001293083.1:p.Lys95Glu | |
| NM_001306155.1:c.169A>G | NP_001293084.1:p.Lys57Glu | |
| NM_001306156.1:c.334A>G | NP_001293085.1:p.Lys112Glu | |
| NM_012073.3:c.448A>G , LRG_361t1:c.448A>G | NP_036205.1:p.Lys150Glu | |
| NM_012073.4:c.448A>G | NP_036205.1:p.Lys150Glu | |
| NM_012073.5:c.448A>G MANE Select | NP_036205.1:p.Lys150Glu | |
| NM_001306154.2:c.283A>G | NP_001293083.1:p.Lys95Glu | |
| NM_001306155.2:c.169A>G | NP_001293084.1:p.Lys57Glu | |
| NM_001306156.2:c.334A>G | NP_001293085.1:p.Lys112Glu |