Linked Data
dbSNP Id:
rs1563527343
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478702A>T , CM000670.2:g.81478702A>T | GRCh38 |
| NC_000008.10:g.82390937A>T , CM000670.1:g.82390937A>T | GRCh37 |
| NC_000008.9:g.82553492A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*163T>A MANE Select | ENSP00000256104.4:n.*163T>A | |
| ENST00000256104.4:c.*163T>A | ENSP00000256104.4:n.*163T>A | |
| ENST00000518669.5:n.497T>A | ||
| ENST00000522659.1:c.*438T>A | ENSP00000428385.1:n.*438T>A | |
| NM_001442.2:c.*163T>A | NP_001433.1:n.*163T>A | |
| XR_001745980.1:n.514+16728A>T | ||
| NM_001442.3:c.*163T>A MANE Select | NP_001433.1:n.*163T>A |