Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312710A>T , CM000673.2:g.118312710A>T | GRCh38 |
| NC_000011.9:g.118183425A>T , CM000673.1:g.118183425A>T | GRCh37 |
| NC_000011.8:g.117688635A>T | NCBI36 |
| NG_007383.1:g.13131A>T , LRG_38:g.13131A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.196A>T MANE Select | ENSP00000354566.4:p.Ile66Leu | |
| ENST00000361763.8:c.196A>T | ENSP00000354566.4:p.Ile66Leu | |
| ENST00000526146.5:n.742A>T | ||
| ENST00000528435.5:n.749A>T | ||
| ENST00000528600.1:c.178A>T | ENSP00000433975.1:p.Ile60Leu | |
| ENST00000529713.5:n.302A>T | ||
| ENST00000531913.1:n.567A>T | ||
| NM_000733.3:c.196A>T , LRG_38t1:c.196A>T | NP_000724.1:p.Ile66Leu | |
| NM_000733.4:c.196A>T MANE Select | NP_000724.1:p.Ile66Leu |