Linked Data
ClinVar Variation Id:
760055
ClinVar RCV Id:
RCV000937956
dbSNP Id:
rs150497212
ExAC:
10:115805036 A / G
gnomAD v2:
10-115805036-A-G
gnomAD v3:
10-114045277-A-G
gnomAD v4:
10-114045277-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114045277A>G , CM000672.2:g.114045277A>G | GRCh38 |
| NC_000010.10:g.115805036A>G , CM000672.1:g.115805036A>G | GRCh37 |
| NC_000010.9:g.115795026A>G | NCBI36 |
| NG_012187.1:g.6231A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.1145A>G MANE Select | ENSP00000358301.2:p.Asp382Gly | |
| ENST00000369295.3:c.1145A>G | ENSP00000358301.2:p.Asp382Gly | |
| NM_000684.2:c.1145A>G | NP_000675.1:p.Asp382Gly | |
| NM_000684.3:c.1145A>G MANE Select | NP_000675.1:p.Asp382Gly |