Linked Data
dbSNP Id:
rs1449895760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72124066C>A , CM000679.2:g.72124066C>A | GRCh38 |
| NC_000017.10:g.70120207C>A , CM000679.1:g.70120207C>A | GRCh37 |
| NC_000017.9:g.67631802C>A | NCBI36 |
| NG_012490.1:g.8047C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1209C>A MANE Select | ENSP00000245479.2:p.Ser403Arg | |
| ENST00000245479.2:c.1209C>A | ENSP00000245479.2:p.Ser403Arg | |
| NM_000346.3:c.1209C>A | NP_000337.1:p.Ser403Arg | |
| NM_000346.4:c.1209C>A MANE Select | NP_000337.1:p.Ser403Arg |