Linked Data
dbSNP Id:
rs1602589912
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084674A>T , CM000685.2:g.108084674A>T | GRCh38 |
| NC_000023.10:g.107327904A>T , CM000685.1:g.107327904A>T | GRCh37 |
| NC_000023.9:g.107214560A>T | NCBI36 |
| NG_012521.1:g.11945T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.*300T>A MANE Select | ENSP00000217958.3:n.*300T>A | |
| ENST00000217958.7:c.*300T>A | ENSP00000217958.3:n.*300T>A | |
| ENST00000372296.5:c.*446T>A | ENSP00000361370.1:n.*446T>A | |
| NM_002814.3:c.*300T>A | NP_002805.1:n.*300T>A | |
| NM_170750.2:c.*446T>A | NP_736606.1:n.*446T>A | |
| NM_002814.4:c.*300T>A MANE Select | NP_002805.1:n.*300T>A | |
| NM_170750.3:c.*446T>A | NP_736606.1:n.*446T>A |