Linked Data
ClinVar Variation Id:
1779895
ClinVar RCV Id:
RCV002404004
dbSNP Id:
rs200694869
ExAC:
3:178937389 A / G
gnomAD v2:
3-178937389-A-G
gnomAD v3:
3-179219601-A-G
gnomAD v4:
3-179219601-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179219601A>G , CM000665.2:g.179219601A>G | GRCh38 |
| NC_000003.11:g.178937389A>G , CM000665.1:g.178937389A>G | GRCh37 |
| NC_000003.10:g.180420083A>G | NCBI36 |
| NG_012113.2:g.76079A>G , LRG_310:g.76079A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1777A>G MANE Select | ENSP00000263967.3:p.Ile593Val | |
| ENST00000462255.2:n.239A>G | ||
| ENST00000643187.1:c.1777A>G | ENSP00000493507.1:p.Ile593Val | |
| ENST00000674534.1:n.2685A>G | ||
| ENST00000674622.1:c.198A>G | ENSP00000502417.1:n.198A>G | |
| ENST00000675467.1:n.4584A>G | ||
| ENST00000675786.1:c.*344A>G | ENSP00000502323.1:n.*344A>G | |
| ENST00000263967.3:c.1777A>G | ENSP00000263967.3:p.Ile593Val | |
| ENST00000462255.1:n.51A>G | ||
| NM_006218.2:c.1777A>G , LRG_310t1:c.1777A>G | NP_006209.2:p.Ile593Val | |
| XM_006713658.2:c.1777A>G | XP_006713721.1:p.Ile593Val | |
| XM_011512894.1:c.1777A>G | XP_011511196.1:p.Ile593Val | |
| NM_006218.3:c.1777A>G | NP_006209.2:p.Ile593Val | |
| XM_006713658.4:c.1777A>G | XP_006713721.1:p.Ile593Val | |
| XM_011512894.2:c.1777A>G | XP_011511196.1:p.Ile593Val | |
| NM_006218.4:c.1777A>G MANE Select | NP_006209.2:p.Ile593Val |