Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218782344A>T , CM000664.2:g.218782344A>T | GRCh38 |
| NC_000002.11:g.219647067A>T , CM000664.1:g.219647067A>T | GRCh37 |
| NC_000002.10:g.219355311A>T | NCBI36 |
| NG_007959.1:g.5596A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.162A>T MANE Select | ENSP00000258415.4:p.Gln54His | |
| ENST00000258415.8:c.162A>T | ENSP00000258415.4:p.Gln54His | |
| ENST00000445971.1:c.162A>T | ENSP00000404945.1:p.Gln54His | |
| ENST00000466602.1:n.171A>T | ||
| ENST00000494263.5:n.596A>T | ||
| NM_000784.3:c.162A>T | NP_000775.1:p.Gln54His | |
| XM_017003488.2:c.-68A>T | XP_016858977.1:n.-68A>T | |
| NM_000784.4:c.162A>T MANE Select | NP_000775.1:p.Gln54His |