Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48528285T>A , CM000685.2:g.48528285T>A | GRCh38 |
| NC_000023.10:g.48386673T>A , CM000685.1:g.48386673T>A | GRCh37 |
| NC_000023.9:g.48271617T>A | NCBI36 |
| NG_007452.1:g.11510T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000495186.6:c.521T>A MANE Select | ENSP00000417052.1:p.Phe174Tyr | |
| ENST00000651615.1:c.469+1000T>A | ENSP00000498524.1:n.469+1000T>A | |
| ENST00000276096.10:n.479T>A | ||
| ENST00000495186.5:c.521T>A | ENSP00000417052.1:p.Phe174Tyr | |
| ENST00000498425.1:n.642T>A | ||
| NM_006579.2:c.521T>A | NP_006570.1:p.Phe174Tyr | |
| NM_006579.3:c.521T>A MANE Select | NP_006570.1:p.Phe174Tyr |