Linked Data
ClinVar Variation Id:
673782
ClinVar RCV Id:
RCV000833070
dbSNP Id:
rs3106796
gnomAD v2:
2-189849773-A-G
gnomAD v3:
2-188985047-A-G
gnomAD v4:
2-188985047-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188985047A>G , CM000664.2:g.188985047A>G | GRCh38 |
| NC_000002.11:g.189849773A>G , CM000664.1:g.189849773A>G | GRCh37 |
| NC_000002.10:g.189558018A>G | NCBI36 |
| NG_007404.1:g.15675A>G , LRG_3:g.15675A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450867.2:c.282+85A>G | ENSP00000415346.2:n.282+85A>G | |
| ENST00000304636.9:c.282+85A>G MANE Select | ENSP00000304408.4:n.282+85A>G | |
| ENST00000304636.7:c.282+85A>G | ENSP00000304408.3:n.282+85A>G | |
| ENST00000317840.9:c.282+85A>G | ENSP00000315243.6:n.282+85A>G | |
| ENST00000470167.1:n.463A>G | ||
| NM_000090.3:c.282+85A>G , LRG_3t1:c.282+85A>G | NP_000081.1:n.282+85A>G | |
| NM_000090.4:c.282+85A>G MANE Select | NP_000081.2:n.282+85A>G |