Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709802A>T , CM000681.2:g.6709802A>T | GRCh38 |
| NC_000019.9:g.6709813A>T , CM000681.1:g.6709813A>T | GRCh37 |
| NC_000019.8:g.6660813A>T | NCBI36 |
| NG_009557.1:g.15850T>A , LRG_27:g.15850T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1604T>A | ENSP00000512083.1:p.Val535Glu | |
| ENST00000695654.1:c.851T>A | ENSP00000512085.1:p.Val284Glu | |
| ENST00000695655.1:c.668T>A | ENSP00000512086.1:n.668T>A | |
| ENST00000695692.1:n.1091T>A | ||
| ENST00000245907.11:c.1727T>A MANE Select | ENSP00000245907.4:p.Val576Glu | |
| ENST00000245907.10:c.1727T>A | ENSP00000245907.4:p.Val576Glu | |
| ENST00000600763.1:n.360T>A | ||
| NM_000064.3:c.1727T>A | NP_000055.2:p.Val576Glu | |
| NM_000064.4:c.1727T>A MANE Select | NP_000055.2:p.Val576Glu |