Linked Data
ClinVar Variation Id:
387082
dbSNP Id:
rs1057522685
gnomAD v3:
13-76992008-C-A
gnomAD v4:
13-76992008-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76992008C>A , CM000675.2:g.76992008C>A | GRCh38 |
| NC_000013.10:g.77566143C>A , CM000675.1:g.77566143C>A | GRCh37 |
| NC_000013.9:g.76464144C>A | NCBI36 |
| NG_009064.1:g.5085C>A , LRG_692:g.5085C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636183.2:c.-91C>A | ENSP00000490181.2:n.-91C>A | |
| ENST00000377453.7:c.57C>A | ENSP00000366673.3:p.Gly19= | |
| NM_006493.2:c.57C>A , LRG_692t1:c.57C>A | NP_006484.1:p.Gly19= | |
| XM_011534917.1:c.57C>A | XP_011533219.1:p.Gly19= |