Linked Data
ClinVar Variation Id:
135407
dbSNP Id:
rs587778744
gnomAD v4:
3-10149881-A-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149881A>C , CM000665.2:g.10149881A>C | GRCh38 |
| NC_000003.11:g.10191565A>C , CM000665.1:g.10191565A>C | GRCh37 |
| NC_000003.10:g.10166565A>C | NCBI36 |
| NG_008212.3:g.13247A>C , LRG_322:g.13247A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*235A>C | ENSP00000512434.1:n.*235A>C | |
| ENST00000696143.1:c.694A>C | ENSP00000512435.1:n.694A>C | |
| ENST00000696153.1:c.669A>C | ENSP00000512444.1:p.Glu223Asp | |
| ENST00000256474.3:c.558A>C MANE Select | ENSP00000256474.3:p.Glu186Asp | |
| ENST00000256474.2:c.558A>C | ENSP00000256474.2:p.Glu186Asp | |
| ENST00000345392.2:c.435A>C | ENSP00000344757.2:p.Glu145Asp | |
| ENST00000477538.1:n.694A>C | ||
| NM_000551.3:c.558A>C , LRG_322t1:c.558A>C | NP_000542.1:p.Glu186Asp | |
| NM_198156.2:c.435A>C | NP_937799.1:p.Glu145Asp | |
| NM_001354723.1:c.*112A>C | NP_001341652.1:n.*112A>C | |
| NM_000551.4:c.558A>C MANE Select | NP_000542.1:p.Glu186Asp | |
| NM_001354723.2:c.*112A>C | NP_001341652.1:n.*112A>C | |
| NM_198156.3:c.435A>C | NP_937799.1:p.Glu145Asp |