Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985967T>A , CM000678.2:g.1985967T>A | GRCh38 |
| NC_000016.9:g.2035968T>A , CM000678.1:g.2035968T>A | GRCh37 |
| NC_000016.8:g.1975969T>A | NCBI36 |
| NG_016288.1:g.6819T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.332T>A | ENSP00000455885.1:p.Phe111Tyr | |
| ENST00000248114.7:c.557T>A MANE Select | ENSP00000248114.6:p.Phe186Tyr | |
| ENST00000248114.6:c.557T>A | ENSP00000248114.6:p.Phe186Tyr | |
| ENST00000565658.1:n.714T>A | ||
| ENST00000567719.1:c.332T>A | ENSP00000455885.1:p.Phe111Tyr | |
| ENST00000569451.1:c.*30T>A | ENSP00000456432.1:n.*30T>A | |
| NM_005262.2:c.557T>A | NP_005253.3:p.Phe186Tyr | |
| NM_005262.3:c.557T>A MANE Select | NP_005253.3:p.Phe186Tyr |