Linked Data
ClinVar Variation Id:
194756
dbSNP Id:
rs145508640
ExAC:
9:35057129 A / G
gnomAD v2:
9-35057129-A-G
gnomAD v3:
9-35057132-A-G
gnomAD v4:
9-35057132-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35057132A>G , CM000671.2:g.35057132A>G | GRCh38 |
| NC_000009.11:g.35057129A>G , CM000671.1:g.35057129A>G | GRCh37 |
| NC_000009.10:g.35047129A>G | NCBI36 |
| NG_007887.1:g.20611T>C , LRG_657:g.20611T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.2406T>C MANE Select | ENSP00000351777.6:p.Asp802= | |
| ENST00000417448.2:c.2271T>C | ENSP00000399456.2:p.Asp757= | |
| ENST00000448530.6:c.2271T>C | ENSP00000392088.2:p.Asp757= | |
| ENST00000479300.2:n.934T>C | ||
| ENST00000676836.2:n.3149T>C | ||
| ENST00000677257.1:c.2400T>C | ENSP00000504354.1:p.Asp800= | |
| ENST00000678018.1:c.*2377T>C | ENSP00000503811.1:n.*2377T>C | |
| ENST00000678465.1:c.*1418T>C | ENSP00000504259.1:n.*1418T>C | |
| ENST00000678650.1:c.2271T>C | ENSP00000503426.1:p.Asp757= | |
| ENST00000679204.2:c.*1047T>C | ENSP00000503131.2:n.*1047T>C | |
| ENST00000679599.1:n.4995T>C | ||
| ENST00000679647.1:c.2084-37T>C | ENSP00000506216.1:n.2084-37T>C | |
| ENST00000679800.1:n.2805T>C | ||
| ENST00000679862.1:c.2268T>C | ENSP00000504990.1:p.Asp756= | |
| ENST00000679902.1:c.*240T>C | ENSP00000506338.1:n.*240T>C | |
| ENST00000680916.1:c.*371T>C | ENSP00000505769.1:n.*371T>C | |
| ENST00000681335.1:c.2250T>C | ENSP00000505230.1:p.Asp750= | |
| ENST00000681537.1:c.235T>C | ENSP00000505847.1:n.235T>C | |
| ENST00000681690.1:n.4211T>C | ||
| ENST00000358901.10:c.2406T>C | ENSP00000351777.6:p.Asp802= | |
| ENST00000493886.5:n.2680T>C | ||
| NM_007126.3:c.2406T>C , LRG_657t1:c.2406T>C | NP_009057.1:p.Asp802= | |
| NM_001354927.1:c.2271T>C | NP_001341856.1:p.Asp757= | |
| NM_001354928.1:c.2271T>C | NP_001341857.1:p.Asp757= | |
| NM_007126.4:c.2406T>C | NP_009057.1:p.Asp802= | |
| NM_007126.5:c.2406T>C MANE Select | NP_009057.1:p.Asp802= | |
| NM_001354927.2:c.2271T>C | NP_001341856.1:p.Asp757= | |
| NM_001354928.2:c.2271T>C | NP_001341857.1:p.Asp757= |