Linked Data
ClinVar Variation Id:
786422
ClinVar RCV Id:
RCV000968480
dbSNP Id:
rs61754965
ExAC:
12:78604257 A / G
gnomAD v2:
12-78604257-A-G
gnomAD v3:
12-78210477-A-G
gnomAD v4:
12-78210477-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.78210477A>G , CM000674.2:g.78210477A>G | GRCh38 |
| NC_000012.11:g.78604257A>G , CM000674.1:g.78604257A>G | GRCh37 |
| NC_000012.10:g.77128388A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397909.7:c.7118A>G MANE Select | ENSP00000381007.2:p.His2373Arg | |
| ENST00000644176.1:c.5489A>G | ENSP00000495503.1:p.His1830Arg | |
| ENST00000397909.6:c.7118A>G | ENSP00000381007.2:p.His2373Arg | |
| ENST00000536525.6:c.7052A>G | ENSP00000446132.2:p.His2351Arg | |
| ENST00000551162.1:c.720A>G | ||
| ENST00000552895.5:c.3735A>G | ||
| NM_001024383.1:c.7118A>G | NP_001019554.1:p.His2373Arg | |
| NM_014903.5:c.7052A>G | NP_055718.4:p.His2351Arg | |
| XM_005269215.2:c.7031A>G | XP_005269272.1:p.His2344Arg | |
| XM_006719675.2:c.6983A>G | XP_006719738.1:p.His2328Arg | |
| XM_006719677.2:c.5552A>G | XP_006719740.1:p.His1851Arg | |
| XM_011538940.1:c.7010A>G | XP_011537242.1:p.His2337Arg | |
| XM_011538941.1:c.6989A>G | XP_011537243.1:p.His2330Arg | |
| XM_011538942.1:c.6881A>G | XP_011537244.1:p.His2294Arg | |
| XM_011538943.1:c.6563A>G | XP_011537245.1:p.His2188Arg | |
| XM_011538944.1:c.6521A>G | XP_011537246.1:p.His2174Arg | |
| XM_011538945.1:c.6323A>G | XP_011537247.1:p.His2108Arg | |
| XM_005269215.4:c.7031A>G | XP_005269272.1:p.His2344Arg | |
| XM_011538940.2:c.7010A>G | XP_011537242.1:p.His2337Arg | |
| XM_011538941.2:c.6989A>G | XP_011537243.1:p.His2330Arg | |
| XM_011538944.3:c.6521A>G | XP_011537246.1:p.His2174Arg | |
| XM_017020164.2:c.7097A>G | XP_016875653.1:p.His2366Arg | |
| XM_017020165.1:c.7055A>G | XP_016875654.1:p.His2352Arg | |
| XM_017020166.2:c.6947A>G | XP_016875655.1:p.His2316Arg | |
| XM_017020167.1:c.6878A>G | XP_016875656.1:p.His2293Arg | |
| XM_017020168.1:c.6629A>G | XP_016875657.1:p.His2210Arg | |
| XM_017020169.2:c.6587A>G | XP_016875658.1:p.His2196Arg | |
| XM_017020170.1:c.6500A>G | XP_016875659.1:p.His2167Arg | |
| XM_017020171.1:c.5618A>G | XP_016875660.1:p.His1873Arg | |
| XM_017020172.1:c.5489A>G | XP_016875661.1:p.His1830Arg | |
| XM_017020173.2:c.5129A>G | XP_016875662.1:p.His1710Arg | |
| XM_017020174.1:c.5087A>G | XP_016875663.1:p.His1696Arg | |
| XM_017020175.1:c.5063A>G | XP_016875664.1:p.His1688Arg | |
| NM_001024383.2:c.7118A>G MANE Select | NP_001019554.1:p.His2373Arg | |
| NM_014903.6:c.7052A>G | NP_055718.4:p.His2351Arg |