HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68646818C>A , CM000666.2:g.68646818C>A | GRCh38 |
NC_000004.11:g.69512536C>A , CM000666.1:g.69512536C>A | GRCh37 |
NC_000004.10:g.69195131C>A | NCBI36 |
NG_052676.1:g.28959G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338206.6:c.*286G>T MANE Select | ENSP00000341045.5:n.*286G>T | |
ENST00000338206.5:c.*286G>T | ENSP00000341045.5:n.*286G>T | |
ENST00000616841.4:c.1732+147G>T | ENSP00000482004.1:n.1732+147G>T | |
NM_001076.3:c.*286G>T | NP_001067.2:n.*286G>T | |
NM_001076.4:c.*286G>T MANE Select | NP_001067.2:n.*286G>T |