Linked Data
ClinVar Variation Id:
93861
dbSNP Id:
rs1053312
ExAC:
21:47423389 G / A
gnomAD v2:
21-47423389-G-A
gnomAD v3:
21-46003475-G-A
gnomAD v4:
21-46003475-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46003475G>A , CM000683.2:g.46003475G>A | GRCh38 |
| NC_000021.8:g.47423389G>A , CM000683.1:g.47423389G>A | GRCh37 |
| NC_000021.7:g.46247817G>A | NCBI36 |
| NG_008674.1:g.26727G>A , LRG_475:g.26727G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463060.6:n.948G>A | ||
| ENST00000612273.2:c.675G>A | ||
| ENST00000682634.1:c.675G>A | ||
| ENST00000361866.8:c.2549G>A MANE Select | ENSP00000355180.3:p.Arg850His | |
| ENST00000361866.7:c.2549G>A | ENSP00000355180.3:p.Arg850His | |
| ENST00000486023.1:n.337G>A | ||
| ENST00000498614.5:n.783G>A | ||
| ENST00000612273.1:c.2543G>A | ENSP00000483630.1:p.Arg848His | |
| NM_001848.2:c.2549G>A , LRG_475t1:c.2549G>A | NP_001839.2:p.Arg850His | |
| NM_001848.3:c.2549G>A MANE Select | NP_001839.2:p.Arg850His |