Linked Data
ClinVar Variation Id:
284265
dbSNP Id:
rs764235653
ExAC:
21:47414097 A / G
gnomAD v2:
21-47414097-A-G
gnomAD v3:
21-45994183-A-G
gnomAD v4:
21-45994183-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45994183A>G , CM000683.2:g.45994183A>G | GRCh38 |
| NC_000021.8:g.47414097A>G , CM000683.1:g.47414097A>G | GRCh37 |
| NC_000021.7:g.46238525A>G | NCBI36 |
| NG_008674.1:g.17435A>G , LRG_475:g.17435A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683550.1:n.127A>G | ||
| ENST00000361866.8:c.1352A>G MANE Select | ENSP00000355180.3:p.Gln451Arg | |
| ENST00000361866.7:c.1352A>G | ENSP00000355180.3:p.Gln451Arg | |
| ENST00000612273.1:c.1352A>G | ENSP00000483630.1:p.Gln451Arg | |
| NM_001848.2:c.1352A>G , LRG_475t1:c.1352A>G | NP_001839.2:p.Gln451Arg | |
| NM_001848.3:c.1352A>G MANE Select | NP_001839.2:p.Gln451Arg |