Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7502604G>T , CM000679.2:g.7502604G>T | GRCh38 |
| NC_000017.10:g.7405923G>T , CM000679.1:g.7405923G>T | GRCh37 |
| NC_000017.9:g.7346647G>T | NCBI36 |
| NG_027747.1:g.23226G>T | |
| NG_027747.2:g.23226G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617998.6:n.3058G>T | ||
| ENST00000674977.2:c.2659G>T | ENSP00000502190.2:p.Val887Leu | |
| ENST00000576114.1:n.125G>T | ||
| ENST00000617998.4:c.2659G>T | ENSP00000480158.1:p.Val887Leu | |
| ENST00000621442.4:c.2659G>T | ENSP00000483957.1:p.Val887Leu | |
| NM_000937.4:c.2659G>T | NP_000928.1:p.Val887Leu | |
| NM_000937.5:c.2659G>T MANE Select | NP_000928.1:p.Val887Leu |