Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118312790A>T , CM000673.2:g.118312790A>T | GRCh38 |
| NC_000011.9:g.118183505A>T , CM000673.1:g.118183505A>T | GRCh37 |
| NC_000011.8:g.117688715A>T | NCBI36 |
| NG_007383.1:g.13211A>T , LRG_38:g.13211A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361763.9:c.276A>T MANE Select | ENSP00000354566.4:p.Gln92His | |
| ENST00000361763.8:c.276A>T | ENSP00000354566.4:p.Gln92His | |
| ENST00000526146.5:n.822A>T | ||
| ENST00000528435.5:n.829A>T | ||
| ENST00000528600.1:c.258A>T | ENSP00000433975.1:p.Gln86His | |
| ENST00000529713.5:n.382A>T | ||
| ENST00000531913.1:n.647A>T | ||
| NM_000733.3:c.276A>T , LRG_38t1:c.276A>T | NP_000724.1:p.Gln92His | |
| NM_000733.4:c.276A>T MANE Select | NP_000724.1:p.Gln92His |