Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40931765G>T , CM000677.2:g.40931765G>T | GRCh38 |
| NC_000015.9:g.41223963G>T , CM000677.1:g.41223963G>T | GRCh37 |
| NC_000015.8:g.39011255G>T | NCBI36 |
| NG_046974.1:g.7433G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.657G>T MANE Select | ENSP00000249749.5:p.Gln219His | |
| ENST00000249749.6:c.657G>T | ENSP00000249749.5:p.Gln219His | |
| ENST00000559440.1:n.886G>T | ||
| NM_019074.3:c.657G>T | NP_061947.1:p.Gln219His | |
| NM_019074.4:c.657G>T MANE Select | NP_061947.1:p.Gln219His |