Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176119068T>A , CM000664.2:g.176119068T>A | GRCh38 |
| NC_000002.11:g.176983796T>A , CM000664.1:g.176983796T>A | GRCh37 |
| NC_000002.10:g.176692042T>A | NCBI36 |
| NG_008133.2:g.12305T>A , LRG_246:g.12305T>A | |
| NG_009225.1:g.1384T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249501.5:c.860T>A MANE Select | ENSP00000249501.4:p.Phe287Tyr | |
| ENST00000249501.4:c.860T>A | ENSP00000249501.4:p.Phe287Tyr | |
| ENST00000490088.2:n.684T>A | ||
| ENST00000549469.1:n.731T>A | ||
| NM_002148.3:c.860T>A , LRG_246t1:c.860T>A | NP_002139.2:p.Phe287Tyr | |
| NM_002148.4:c.860T>A MANE Select | NP_002139.2:p.Phe287Tyr |