Linked Data
ClinVar Variation Id:
3122
ClinVar RCV Id:
RCV002512696
dbSNP Id:
rs120074183
gnomAD v3:
11-2585213-G-A
gnomAD v4:
11-2585213-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2585213G>A , CM000673.2:g.2585213G>A | GRCh38 |
| NC_000011.9:g.2606443G>A , CM000673.1:g.2606443G>A | GRCh37 |
| NC_000011.8:g.2563019G>A | NCBI36 |
| NG_008935.1:g.145223G>A , LRG_287:g.145223G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.771+1668G>A | ENSP00000434560.2:n.771+1668G>A | |
| ENST00000646564.2:c.588+1668G>A | ENSP00000495806.2:n.588+1668G>A | |
| ENST00000155840.12:c.1034G>A MANE Select | ENSP00000155840.2:p.Gly345Glu | |
| ENST00000335475.6:c.653G>A | ENSP00000334497.5:p.Gly218Glu | |
| ENST00000646564.1:c.234+1668G>A | ENSP00000495806.1:n.234+1668G>A | |
| ENST00000155840.9:c.1034G>A | ENSP00000155840.2:p.Gly345Glu | |
| ENST00000335475.5:c.653G>A | ENSP00000334497.5:p.Gly218Glu | |
| NM_000218.2:c.1034G>A , LRG_287t1:c.1034G>A | NP_000209.2:p.Gly345Glu | |
| NM_181798.1:c.653G>A , LRG_287t2:c.653G>A | NP_861463.1:p.Gly218Glu | |
| NM_000218.3:c.1034G>A MANE Select | NP_000209.2:p.Gly345Glu |