Linked Data
dbSNP Id:
rs2103753454
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47377062T>A , CM000664.2:g.47377062T>A | GRCh38 |
| NC_000002.11:g.47604201T>A , CM000664.1:g.47604201T>A | GRCh37 |
| NC_000002.10:g.47457705T>A | NCBI36 |
| NG_012352.2:g.36900T>A , LRG_215:g.36900T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.540T>A MANE Select | ENSP00000263735.4:p.Phe180Leu | |
| ENST00000263735.8:c.540T>A | ENSP00000263735.4:p.Phe180Leu | |
| ENST00000405271.5:c.624T>A | ENSP00000385476.1:p.Phe208Leu | |
| ENST00000456133.5:c.624T>A | ENSP00000410675.1:p.Phe208Leu | |
| ENST00000490733.1:n.389T>A | ||
| NM_002354.2:c.540T>A , LRG_215t1:c.540T>A | NP_002345.2:p.Phe180Leu | |
| NM_002354.3:c.540T>A MANE Select | NP_002345.2:p.Phe180Leu |