Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86576042T>A , CM000670.2:g.86576042T>A | GRCh38 |
| NC_000008.10:g.87588270T>A , CM000670.1:g.87588270T>A | GRCh37 |
| NC_000008.9:g.87657386T>A | NCBI36 |
| NG_016980.1:g.172634A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2192A>T MANE Select | ENSP00000316605.5:p.Glu731Val | |
| ENST00000681546.1:n.2012A>T | ||
| ENST00000681746.1:c.*603A>T | ENSP00000505959.1:n.*603A>T | |
| ENST00000320005.5:c.2192A>T | ENSP00000316605.5:p.Glu731Val | |
| ENST00000517327.5:c.276+2647A>T | ENSP00000428329.1:n.276+2647A>T | |
| NM_019098.4:c.2192A>T | NP_061971.3:p.Glu731Val | |
| XM_011517138.1:c.1778A>T | XP_011515440.1:p.Glu593Val | |
| XM_011517138.2:c.1778A>T | XP_011515440.1:p.Glu593Val | |
| NM_019098.5:c.2192A>T MANE Select | NP_061971.3:p.Glu731Val |