Linked Data
dbSNP Id:
rs1388469137
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001987T>A , CM000663.2:g.94001987T>A | GRCh38 |
| NC_000001.10:g.94467543T>A , CM000663.1:g.94467543T>A | GRCh37 |
| NC_000001.9:g.94240131T>A | NCBI36 |
| NG_009073.1:g.124163A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6153A>T MANE Select | ENSP00000359245.3:p.Ala2051= | |
| ENST00000370225.3:c.6153A>T | ENSP00000359245.3:p.Ala2051= | |
| ENST00000465352.1:n.569A>T | ||
| ENST00000536513.5:c.2529A>T | ENSP00000439707.2:p.Ala843= | |
| NM_000350.2:c.6153A>T | NP_000341.2:p.Ala2051= | |
| NM_000350.3:c.6153A>T MANE Select | NP_000341.2:p.Ala2051= |