Linked Data
ClinVar Variation Id:
14823
dbSNP Id:
rs1801274
ExAC:
1:161479745 A / G
gnomAD v2:
1-161479745-A-G
gnomAD v3:
1-161509955-A-G
gnomAD v4:
1-161509955-A-G
PubMed:
PMID:8636449
PMID:9843982
PMID:10675363
PMID:15367919
PMID:18347005
PMID:19915573
PMID:19965803
PMID:21109570
PMID:22992668
CIViC:
CA124361
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161509955A>G , CM000663.2:g.161509955A>G | GRCh38 |
| NC_000001.10:g.161479745A>G , CM000663.1:g.161479745A>G | GRCh37 |
| NC_000001.9:g.159746369A>G | NCBI36 |
| NG_012066.1:g.9541A>G | |
| NG_012066.2:g.9541A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699277.1:c.500A>G | ENSP00000514258.1:p.His167Arg | |
| ENST00000699278.1:c.242A>G | ENSP00000514259.1:p.His81Arg | |
| ENST00000699279.1:c.83A>G | ENSP00000514260.1:p.His28Arg | |
| ENST00000271450.12:c.500A>G MANE Select | ENSP00000271450.6:p.His167Arg | |
| ENST00000271450.10:c.500A>G | ENSP00000271450.6:p.His167Arg | |
| ENST00000367972.8:c.497A>G | ENSP00000356949.4:p.His166Arg | |
| ENST00000467525.5:c.395A>G | ENSP00000476495.1:p.His132Arg | |
| ENST00000467654.1:n.519A>G | ||
| ENST00000471026.5:n.193A>G | ||
| ENST00000483665.6:c.*202A>G | ENSP00000440148.1:n.*202A>G | |
| NM_001136219.1:c.500A>G | NP_001129691.1:p.His167Arg | |
| NM_021642.3:c.497A>G | NP_067674.2:p.His166Arg | |
| XM_011509287.1:c.500A>G | XP_011507589.1:p.His167Arg | |
| XM_011509288.1:c.497A>G | XP_011507590.1:p.His166Arg | |
| XM_011509289.1:c.500A>G | XP_011507591.1:p.His167Arg | |
| XM_011509290.1:c.500A>G | XP_011507592.1:p.His167Arg | |
| XM_011509291.1:c.500A>G | XP_011507593.1:p.His167Arg | |
| XM_011509287.2:c.500A>G | XP_011507589.1:p.His167Arg | |
| XM_011509290.2:c.500A>G | XP_011507592.1:p.His167Arg | |
| XM_017000663.2:c.497A>G | XP_016856152.1:p.His166Arg | |
| XM_017000664.1:c.500A>G | XP_016856153.1:p.His167Arg | |
| XM_017000665.1:c.500A>G | XP_016856154.1:p.His167Arg | |
| XM_017000666.1:c.500A>G | XP_016856155.1:p.His167Arg | |
| XM_017000667.1:c.500A>G | XP_016856156.1:p.His167Arg | |
| XM_017000668.2:c.497A>G | XP_016856157.1:p.His166Arg | |
| XM_024454040.1:c.83A>G | XP_024309808.1:p.His28Arg | |
| XM_024454041.1:c.83A>G | XP_024309809.1:p.His28Arg | |
| XR_001737042.1:n.538A>G | ||
| NM_001136219.3:c.500A>G MANE Select | NP_001129691.1:p.His167Arg | |
| NM_001375296.1:c.500A>G | NP_001362225.1:p.His167Arg | |
| NM_001375297.1:c.497A>G | NP_001362226.1:p.His166Arg | |
| NM_021642.5:c.497A>G | NP_067674.2:p.His166Arg |