Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713420A>T , CM000681.2:g.6713420A>T | GRCh38 |
| NC_000019.9:g.6713431A>T , CM000681.1:g.6713431A>T | GRCh37 |
| NC_000019.8:g.6664431A>T | NCBI36 |
| NG_009557.1:g.12232T>A , LRG_27:g.12232T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.740T>A | ENSP00000512083.1:p.Leu247His | |
| ENST00000695692.1:n.187T>A | ||
| ENST00000245907.11:c.863T>A MANE Select | ENSP00000245907.4:p.Leu288His | |
| ENST00000245907.10:c.863T>A | ENSP00000245907.4:p.Leu288His | |
| ENST00000595577.1:n.367T>A | ||
| ENST00000597442.5:n.113T>A | ||
| NM_000064.3:c.863T>A | NP_000055.2:p.Leu288His | |
| NM_000064.4:c.863T>A MANE Select | NP_000055.2:p.Leu288His |