Linked Data
dbSNP Id:
rs1967964709
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713507A>T , CM000681.2:g.6713507A>T | GRCh38 |
| NC_000019.9:g.6713518A>T , CM000681.1:g.6713518A>T | GRCh37 |
| NC_000019.8:g.6664518A>T | NCBI36 |
| NG_009557.1:g.12145T>A , LRG_27:g.12145T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.653T>A | ENSP00000512083.1:p.Phe218Tyr | |
| ENST00000695692.1:n.100T>A | ||
| ENST00000245907.11:c.776T>A MANE Select | ENSP00000245907.4:p.Phe259Tyr | |
| ENST00000245907.10:c.776T>A | ENSP00000245907.4:p.Phe259Tyr | |
| ENST00000595577.1:n.280T>A | ||
| ENST00000597442.5:n.26T>A | ||
| NM_000064.3:c.776T>A | NP_000055.2:p.Phe259Tyr | |
| NM_000064.4:c.776T>A MANE Select | NP_000055.2:p.Phe259Tyr |