Linked Data
dbSNP Id:
rs2134715938
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110575355T>A , CM000672.2:g.110575355T>A | GRCh38 |
| NC_000010.10:g.112335113T>A , CM000672.1:g.112335113T>A | GRCh37 |
| NC_000010.9:g.112325103T>A | NCBI36 |
| NG_012217.1:g.12665T>A , LRG_774:g.12665T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.283T>A | ||
| ENST00000687823.1:n.64T>A | ||
| ENST00000689932.1:n.2213T>A | ||
| ENST00000691297.1:n.283T>A | ||
| ENST00000691527.1:n.240T>A | ||
| ENST00000692792.1:n.269T>A | ||
| ENST00000361804.5:c.150T>A MANE Select | ENSP00000354720.5:p.Ser50Arg | |
| ENST00000361804.4:c.150T>A | ENSP00000354720.4:p.Ser50Arg | |
| ENST00000462899.1:n.296T>A | ||
| NM_005445.3:c.150T>A , LRG_774t1:c.150T>A | NP_005436.1:p.Ser50Arg | |
| NM_005445.4:c.150T>A MANE Select | NP_005436.1:p.Ser50Arg |