Linked Data
dbSNP Id:
rs1801750579
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807373A>T , CM000669.2:g.148807373A>T | GRCh38 |
| NC_000007.13:g.148504465A>T , CM000669.1:g.148504465A>T | GRCh37 |
| NC_000007.12:g.148135398A>T | NCBI36 |
| NG_032043.1:g.81977T>A , LRG_531:g.81977T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683292.1:c.*1425T>A | ENSP00000507503.1:n.*1425T>A | |
| NM_001203247.1:c.*273T>A | NP_001190176.1:n.*273T>A | |
| NM_001203248.1:c.*273T>A | NP_001190177.1:n.*273T>A | |
| NM_001203249.1:c.*273T>A | NP_001190178.1:n.*273T>A | |
| NM_004456.4:c.*273T>A , LRG_531t1:c.*273T>A | NP_004447.2:n.*273T>A | |
| NM_152998.2:c.*273T>A | NP_694543.1:n.*273T>A | |
| XR_928101.1:n.515+2288A>T | ||
| XR_928102.1:n.722+2288A>T |