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