Linked Data
dbSNP Id:
rs11894252
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46306237T>A , CM000664.2:g.46306237T>A | GRCh38 |
| NC_000002.11:g.46533376T>A , CM000664.1:g.46533376T>A | GRCh37 |
| NC_000002.10:g.46386880T>A | NCBI36 |
| NG_016000.1:g.13836T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263734.5:c.26+8300T>A MANE Select | ENSP00000263734.3:n.26+8300T>A | |
| ENST00000263734.4:c.26+8300T>A | ENSP00000263734.3:n.26+8300T>A | |
| ENST00000449347.5:c.26+8300T>A | ENSP00000406137.1:n.26+8300T>A | |
| ENST00000460015.1:n.432+12139T>A | ||
| ENST00000467888.5:n.174+8300T>A | ||
| NM_001430.4:c.26+8300T>A | NP_001421.2:n.26+8300T>A | |
| XR_940055.1:n.2501+7856A>T | ||
| NM_001430.5:c.26+8300T>A MANE Select | NP_001421.2:n.26+8300T>A |