Linked Data
ClinVar Variation Id:
56206
ClinVar RCV Id:
RCV000049617
dbSNP Id:
rs386833657
gnomAD v4:
1-40080464-T-C
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40080464T>C , CM000663.2:g.40080464T>C | GRCh38 |
| NC_000001.10:g.40546136T>C , CM000663.1:g.40546136T>C | GRCh37 |
| NC_000001.9:g.40318723T>C | NCBI36 |
| NG_009192.1:g.22007A>G , LRG_690:g.22007A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*396A>G | ENSP00000361865.5:n.*396A>G | |
| ENST00000433473.8:c.557A>G | ENSP00000394863.4:p.His186Arg | |
| ENST00000439754.6:c.560A>G | ENSP00000403207.2:p.His187Arg | |
| ENST00000449045.7:c.251A>G | ENSP00000392293.2:p.His84Arg | |
| ENST00000527311.7:c.329A>G | ENSP00000436695.3:p.His110Arg | |
| ENST00000530076.6:c.-98A>G | ENSP00000434007.1:n.-98A>G | |
| ENST00000530704.6:c.*183A>G | ENSP00000431655.1:n.*183A>G | |
| ENST00000641083.1:c.538A>G | ||
| ENST00000641236.1:n.797A>G | ||
| ENST00000641319.1:c.560A>G | ENSP00000493128.1:p.His187Arg | |
| ENST00000641381.1:c.149-3551A>G | ||
| ENST00000641471.1:c.647A>G | ENSP00000493146.1:p.His216Arg | |
| ENST00000641691.1:c.*412A>G | ENSP00000492910.1:n.*412A>G | |
| ENST00000641924.1:c.148A>G | ENSP00000493063.1:p.Met50Val | |
| ENST00000642050.2:c.560A>G MANE Select | ENSP00000493153.1:p.His187Arg | |
| ENST00000372779.8:c.647A>G | ENSP00000361865.4:p.His216Arg | |
| ENST00000433473.7:c.560A>G | ENSP00000394863.3:p.His187Arg | |
| ENST00000439754.5:c.245A>G | ENSP00000403207.1:p.His82Arg | |
| ENST00000449045.6:c.251A>G | ENSP00000392293.2:p.His84Arg | |
| ENST00000527311.6:c.335A>G | ENSP00000436695.2:p.His112Arg | |
| ENST00000529905.5:c.560A>G | ENSP00000432053.1:p.His187Arg | |
| ENST00000530076.5:c.-98A>G | ENSP00000434007.1:n.-98A>G | |
| ENST00000530704.5:c.*183A>G | ENSP00000431655.1:n.*183A>G | |
| NM_000310.3:c.560A>G , LRG_690t1:c.560A>G | NP_000301.1:p.His187Arg | |
| NM_001142604.1:c.251A>G | NP_001136076.1:p.His84Arg | |
| XM_005271008.1:c.560A>G | XP_005271065.1:p.His187Arg | |
| NM_001363695.1:c.560A>G | NP_001350624.1:p.His187Arg | |
| NM_000310.4:c.560A>G MANE Select | NP_000301.1:p.His187Arg | |
| NM_001142604.2:c.251A>G | NP_001136076.1:p.His84Arg | |
| NM_001363695.2:c.560A>G | NP_001350624.1:p.His187Arg |