Linked Data
ClinVar Variation Id:
16390
ClinVar RCV Id:
RCV000017816
dbSNP Id:
rs121909622
PubMed:
PMID:10666208
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154570463G>A , CM000666.2:g.154570463G>A | GRCh38 |
| NC_000004.11:g.155491615G>A , CM000666.1:g.155491615G>A | GRCh37 |
| NC_000004.10:g.155711065G>A | NCBI36 |
| NG_008833.1:g.12484G>A , LRG_558:g.12484G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.1289G>A MANE Select | ENSP00000306099.4:p.Gly430Asp | |
| ENST00000302068.8:c.1289G>A | ENSP00000306099.4:p.Gly430Asp | |
| ENST00000502545.5:n.984G>A | ||
| ENST00000509493.1:c.632G>A | ENSP00000426757.1:p.Gly211Asp | |
| NM_001184741.1:c.1112G>A | NP_001171670.1:p.Gly371Asp | |
| NM_005141.4:c.1289G>A , LRG_558t1:c.1289G>A | NP_005132.2:p.Gly430Asp | |
| NM_001382759.1:c.1157G>A | NP_001369688.1:p.Gly386Asp | |
| NM_001382760.1:c.1245-154G>A | NP_001369689.1:n.1245-154G>A | |
| NM_001382761.1:c.1245-46G>A | NP_001369690.1:n.1245-46G>A | |
| NM_001382762.1:c.989G>A | NP_001369691.1:p.Gly330Asp | |
| NM_001382763.1:c.1280G>A | NP_001369692.1:p.Gly427Asp | |
| NM_001382764.1:c.*63G>A | NP_001369693.1:n.*63G>A | |
| NM_001382765.1:c.1265G>A | NP_001369694.1:p.Gly422Asp | |
| NM_005141.5:c.1289G>A MANE Select | NP_005132.2:p.Gly430Asp |