Linked Data
ClinVar Variation Id:
3019607
ClinVar RCV Id:
RCV003874718
dbSNP Id:
rs745533633
ExAC:
8:11607630 G / A
gnomAD v2:
8-11607630-G-A
gnomAD v4:
8-11750121-G-A
COSMIC:
COSM1454350
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11750121G>A , CM000670.2:g.11750121G>A | GRCh38 |
| NC_000008.10:g.11607630G>A , CM000670.1:g.11607630G>A | GRCh37 |
| NC_000008.9:g.11645039G>A | NCBI36 |
| NG_008177.2:g.78203G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622443.3:c.794G>A | ENSP00000482268.2:p.Arg265His | |
| ENST00000532059.6:c.797G>A MANE Select | ENSP00000435712.1:p.Arg266His | |
| ENST00000335135.8:c.794G>A | ENSP00000334458.4:p.Arg265His | |
| ENST00000526716.5:c.176G>A | ENSP00000435347.1:p.Arg59His | |
| ENST00000528712.5:c.176G>A | ENSP00000435043.1:p.Arg59His | |
| ENST00000532059.5:c.797G>A | ENSP00000435712.1:p.Arg266His | |
| ENST00000622443.2:c.791G>A | ENSP00000482268.1:p.Arg264His | |
| NM_001308093.1:c.797G>A | NP_001295022.1:p.Arg266His | |
| NM_001308094.1:c.176G>A | NP_001295023.1:p.Arg59His | |
| NM_002052.3:c.794G>A | NP_002043.2:p.Arg265His | |
| NM_002052.4:c.794G>A | NP_002043.2:p.Arg265His | |
| XM_005272385.3:c.797G>A | XP_005272442.1:p.Arg266His | |
| XM_005272386.1:c.797G>A | XP_005272443.1:p.Arg266His | |
| XM_006716248.1:c.797G>A | XP_006716311.1:p.Arg266His | |
| XM_011543817.1:c.797G>A | XP_011542119.1:p.Arg266His | |
| XM_011543818.1:c.797G>A | XP_011542120.1:p.Arg266His | |
| XM_005272385.4:c.797G>A | XP_005272442.1:p.Arg266His | |
| XM_011543817.3:c.797G>A | XP_011542119.1:p.Arg266His | |
| XM_011543818.2:c.797G>A | XP_011542120.1:p.Arg266His | |
| XM_017013312.2:c.797G>A | XP_016868801.1:p.Arg266His | |
| NM_001308093.3:c.797G>A MANE Select | NP_001295022.1:p.Arg266His | |
| NM_001308094.2:c.176G>A | NP_001295023.1:p.Arg59His | |
| NM_001374273.1:c.176G>A | NP_001361202.1:p.Arg59His | |
| NM_001374274.1:c.165+1036G>A | NP_001361203.1:n.165+1036G>A | |
| NM_002052.5:c.794G>A | NP_002043.2:p.Arg265His |