Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312666A>T , CM000673.2:g.118312666A>T | GRCh38 |
| NC_000011.9:g.118183381A>T , CM000673.1:g.118183381A>T | GRCh37 |
| NC_000011.8:g.117688591A>T | NCBI36 |
| NG_007383.1:g.13087A>T , LRG_38:g.13087A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.152A>T MANE Select | ENSP00000354566.4:p.Gln51Leu | |
| ENST00000361763.8:c.152A>T | ENSP00000354566.4:p.Gln51Leu | |
| ENST00000526146.5:n.698A>T | ||
| ENST00000528435.5:n.705A>T | ||
| ENST00000528600.1:c.134A>T | ENSP00000433975.1:p.Gln45Leu | |
| ENST00000529713.5:n.258A>T | ||
| ENST00000531913.1:n.523A>T | ||
| NM_000733.3:c.152A>T , LRG_38t1:c.152A>T | NP_000724.1:p.Gln51Leu | |
| NM_000733.4:c.152A>T MANE Select | NP_000724.1:p.Gln51Leu |