Linked Data
MyVariant Identifiers:
chr16:g.67976659G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942756G>A , CM000678.2:g.67942756G>A | GRCh38 |
| NC_000016.9:g.67976659G>A , CM000678.1:g.67976659G>A | GRCh37 |
| NC_000016.8:g.66534160G>A | NCBI36 |
| NG_009778.1:g.6357C>T | |
| NG_033098.1:g.30939C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.438C>T MANE Select | ENSP00000264005.5:p.His146= | |
| ENST00000264005.9:c.438C>T | ENSP00000264005.5:p.His146= | |
| ENST00000570369.5:c.155+105C>T | ||
| ENST00000570980.1:c.222C>T | ENSP00000464651.1:p.His74= | |
| ENST00000573538.5:c.81C>T | ENSP00000463220.1:p.His27= | |
| ENST00000573846.1:n.52C>T | ||
| ENST00000575277.1:n.216C>T | ||
| ENST00000575467.5:c.*133C>T | ENSP00000460653.1:n.*133C>T | |
| NM_000229.1:c.438C>T | NP_000220.1:p.His146= | |
| NM_000229.2:c.438C>T MANE Select | NP_000220.1:p.His146= |