Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713426T>A , CM000681.2:g.6713426T>A | GRCh38 |
| NC_000019.9:g.6713437T>A , CM000681.1:g.6713437T>A | GRCh37 |
| NC_000019.8:g.6664437T>A | NCBI36 |
| NG_009557.1:g.12226A>T , LRG_27:g.12226A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.734A>T | ENSP00000512083.1:p.Glu245Val | |
| ENST00000695692.1:n.181A>T | ||
| ENST00000245907.11:c.857A>T MANE Select | ENSP00000245907.4:p.Glu286Val | |
| ENST00000245907.10:c.857A>T | ENSP00000245907.4:p.Glu286Val | |
| ENST00000595577.1:n.361A>T | ||
| ENST00000597442.5:n.107A>T | ||
| NM_000064.3:c.857A>T | NP_000055.2:p.Glu286Val | |
| NM_000064.4:c.857A>T MANE Select | NP_000055.2:p.Glu286Val |