Linked Data
ClinVar Variation Id:
1327
dbSNP Id:
rs118203986
ExAC:
5:10256175 A / G
gnomAD v2:
5-10256175-A-G
gnomAD v3:
5-10256063-A-G
gnomAD v4:
5-10256063-A-G
PubMed:
PMID:16399879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10256063A>G , CM000667.2:g.10256063A>G | GRCh38 |
| NC_000005.9:g.10256175A>G , CM000667.1:g.10256175A>G | GRCh37 |
| NC_000005.8:g.10309175A>G | NCBI36 |
| NG_012160.1:g.10894A>G , LRG_361:g.10894A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280326.9:c.440A>G MANE Select | ENSP00000280326.4:p.His147Arg | |
| ENST00000280326.8:c.440A>G | ENSP00000280326.4:p.His147Arg | |
| ENST00000423695.6:n.128-2048A>G | ||
| ENST00000503026.5:c.377A>G | ENSP00000423318.1:p.His126Arg | |
| ENST00000503454.5:c.329A>G | ||
| ENST00000506600.1:c.161A>G | ENSP00000423052.1:p.His54Arg | |
| ENST00000511700.1:c.355A>G | ENSP00000423087.1:n.355A>G | |
| ENST00000512975.5:c.106-2048A>G | ENSP00000425751.1:n.106-2048A>G | |
| ENST00000515390.5:c.275A>G | ENSP00000426923.1:p.His92Arg | |
| ENST00000515676.5:c.326A>G | ENSP00000427297.1:p.His109Arg | |
| ENST00000625723.1:c.106-2048A>G | ENSP00000487128.1:n.106-2048A>G | |
| NM_001306153.1:c.377A>G | NP_001293082.1:p.His126Arg | |
| NM_001306154.1:c.275A>G | NP_001293083.1:p.His92Arg | |
| NM_001306155.1:c.161A>G | NP_001293084.1:p.His54Arg | |
| NM_001306156.1:c.326A>G | NP_001293085.1:p.His109Arg | |
| NM_012073.3:c.440A>G , LRG_361t1:c.440A>G | NP_036205.1:p.His147Arg | |
| NM_012073.4:c.440A>G | NP_036205.1:p.His147Arg | |
| NM_012073.5:c.440A>G MANE Select | NP_036205.1:p.His147Arg | |
| NM_001306154.2:c.275A>G | NP_001293083.1:p.His92Arg | |
| NM_001306155.2:c.161A>G | NP_001293084.1:p.His54Arg | |
| NM_001306156.2:c.326A>G | NP_001293085.1:p.His109Arg |