Linked Data
ClinVar Variation Id:
522912
ClinVar RCV Id:
RCV003226340
dbSNP Id:
rs764129993
ExAC:
21:47421289 G / A
gnomAD v2:
21-47421289-G-A
gnomAD v3:
21-46001375-G-A
gnomAD v4:
21-46001375-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46001375G>A , CM000683.2:g.46001375G>A | GRCh38 |
| NC_000021.8:g.47421289G>A , CM000683.1:g.47421289G>A | GRCh37 |
| NC_000021.7:g.46245717G>A | NCBI36 |
| NG_008674.1:g.24627G>A , LRG_475:g.24627G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463060.6:n.344G>A | ||
| ENST00000612273.2:c.71G>A | ||
| ENST00000682634.1:c.71G>A | ||
| ENST00000361866.8:c.1945G>A MANE Select | ENSP00000355180.3:p.Glu649Lys | |
| ENST00000361866.7:c.1945G>A | ENSP00000355180.3:p.Glu649Lys | |
| ENST00000463060.5:n.344G>A | ||
| ENST00000498614.5:n.179G>A | ||
| ENST00000612273.1:c.1939G>A | ENSP00000483630.1:p.Glu647Lys | |
| NM_001848.2:c.1945G>A , LRG_475t1:c.1945G>A | NP_001839.2:p.Glu649Lys | |
| NM_001848.3:c.1945G>A MANE Select | NP_001839.2:p.Glu649Lys |