Linked Data
ClinVar Variation Id:
12908
ClinVar RCV Id:
RCV000013771
dbSNP Id:
rs121912669
ExAC:
22:32439351 A / G
gnomAD v2:
22-32439351-A-G
gnomAD v3:
22-32043364-A-G
gnomAD v4:
22-32043364-A-G
PubMed:
PMID:8195156
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32043364A>G , CM000684.2:g.32043364A>G | GRCh38 |
| NC_000022.10:g.32439351A>G , CM000684.1:g.32439351A>G | GRCh37 |
| NC_000022.9:g.30769351A>G | NCBI36 |
| NG_017045.1:g.5333A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000266088.9:c.83A>G MANE Select | ENSP00000266088.4:p.Asp28Gly | |
| ENST00000266088.8:c.83A>G | ENSP00000266088.4:p.Asp28Gly | |
| NM_000343.3:c.83A>G | NP_000334.1:p.Asp28Gly | |
| XM_011530331.1:c.83A>G | XP_011528633.1:p.Asp28Gly | |
| NM_000343.4:c.83A>G MANE Select | NP_000334.1:p.Asp28Gly |