Linked Data
ClinVar Variation Id:
575957
dbSNP Id:
rs939858453
gnomAD v2:
1-40546109-C-T
gnomAD v3:
1-40080437-C-T
gnomAD v4:
1-40080437-C-T
COSMIC:
COSM4007891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40080437C>T , CM000663.2:g.40080437C>T | GRCh38 |
| NC_000001.10:g.40546109C>T , CM000663.1:g.40546109C>T | GRCh37 |
| NC_000001.9:g.40318696C>T | NCBI36 |
| NG_009192.1:g.22034G>A , LRG_690:g.22034G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.584G>A | ENSP00000394863.4:p.Arg195His | |
| ENST00000439754.6:c.587G>A | ENSP00000403207.2:p.Arg196His | |
| ENST00000449045.7:c.278G>A | ENSP00000392293.2:p.Arg93His | |
| ENST00000527311.7:c.356G>A | ENSP00000436695.3:p.Arg119His | |
| ENST00000530076.6:c.-71G>A | ENSP00000434007.1:n.-71G>A | |
| ENST00000530704.6:c.*210G>A | ENSP00000431655.1:n.*210G>A | |
| ENST00000641083.1:c.565G>A | ||
| ENST00000641236.1:n.824G>A | ||
| ENST00000641319.1:c.587G>A | ENSP00000493128.1:p.Arg196His | |
| ENST00000641381.1:c.149-3524G>A | ||
| ENST00000641471.1:c.674G>A | ENSP00000493146.1:p.Arg225His | |
| ENST00000641691.1:c.*439G>A | ENSP00000492910.1:n.*439G>A | |
| ENST00000641924.1:c.*16G>A | ENSP00000493063.1:n.*16G>A | |
| ENST00000642050.2:c.587G>A MANE Select | ENSP00000493153.1:p.Arg196His | |
| ENST00000372779.8:c.674G>A | ENSP00000361865.4:p.Arg225His | |
| ENST00000433473.7:c.587G>A | ENSP00000394863.3:p.Arg196His | |
| ENST00000439754.5:c.272G>A | ENSP00000403207.1:p.Arg91His | |
| ENST00000449045.6:c.278G>A | ENSP00000392293.2:p.Arg93His | |
| ENST00000527311.6:c.362G>A | ENSP00000436695.2:p.Arg121His | |
| ENST00000529905.5:c.587G>A | ENSP00000432053.1:p.Arg196His | |
| ENST00000530076.5:c.-71G>A | ENSP00000434007.1:n.-71G>A | |
| ENST00000530704.5:c.*210G>A | ENSP00000431655.1:n.*210G>A | |
| NM_000310.3:c.587G>A , LRG_690t1:c.587G>A | NP_000301.1:p.Arg196His | |
| NM_001142604.1:c.278G>A | NP_001136076.1:p.Arg93His | |
| XM_005271008.1:c.587G>A | XP_005271065.1:p.Arg196His | |
| NM_001363695.1:c.587G>A | NP_001350624.1:p.Arg196His | |
| NM_000310.4:c.587G>A MANE Select | NP_000301.1:p.Arg196His | |
| NM_001142604.2:c.278G>A | NP_001136076.1:p.Arg93His | |
| NM_001363695.2:c.587G>A | NP_001350624.1:p.Arg196His |