Linked Data
ClinVar Variation Id:
2955065
ClinVar RCV Id:
RCV003818240
dbSNP Id:
rs1040872908
gnomAD v2:
1-33245026-T-A
gnomAD v3:
1-32779425-T-A
gnomAD v4:
1-32779425-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32779425T>A , CM000663.2:g.32779425T>A | GRCh38 |
| NC_000001.10:g.33245026T>A , CM000663.1:g.33245026T>A | GRCh37 |
| NC_000001.9:g.33017613T>A | NCBI36 |
| NG_008408.1:g.43608A>T , LRG_273:g.43608A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.1286A>T | ENSP00000502019.1:p.Asp429Val | |
| ENST00000373477.9:c.1433A>T MANE Select | ENSP00000362576.4:p.Asp478Val | |
| ENST00000674629.1:c.*981A>T | ENSP00000502470.1:n.*981A>T | |
| ENST00000674654.1:c.*1393A>T | ENSP00000501729.1:n.*1393A>T | |
| ENST00000675785.1:c.1286A>T | ENSP00000502019.1:p.Asp429Val | |
| ENST00000676297.1:c.*1607A>T | ENSP00000501596.1:n.*1607A>T | |
| ENST00000373477.8:c.1433A>T | ENSP00000362576.4:p.Asp478Val | |
| ENST00000469100.5:n.1349A>T | ||
| ENST00000478828.1:n.900A>T | ||
| ENST00000487404.5:n.1743A>T | ||
| ENST00000490826.1:n.1287A>T | ||
| NM_003680.3:c.1433A>T , LRG_273t1:c.1433A>T | NP_003671.1:p.Asp478Val | |
| XM_011542347.1:c.803A>T | XP_011540649.1:p.Asp268Val | |
| XM_011542348.1:c.803A>T | XP_011540650.1:p.Asp268Val | |
| XM_011542347.2:c.803A>T | XP_011540649.1:p.Asp268Val | |
| XM_017002651.2:c.803A>T | XP_016858140.1:p.Asp268Val | |
| NM_003680.4:c.1433A>T MANE Select | NP_003671.1:p.Asp478Val |