HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68646882C>T , CM000666.2:g.68646882C>T | GRCh38 |
NC_000004.11:g.69512600C>T , CM000666.1:g.69512600C>T | GRCh37 |
NC_000004.10:g.69195195C>T | NCBI36 |
NG_052676.1:g.28895G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338206.6:c.*222G>A MANE Select | ENSP00000341045.5:n.*222G>A | |
ENST00000338206.5:c.*222G>A | ENSP00000341045.5:n.*222G>A | |
ENST00000616841.4:c.1732+83G>A | ENSP00000482004.1:n.1732+83G>A | |
NM_001076.3:c.*222G>A | NP_001067.2:n.*222G>A | |
NM_001076.4:c.*222G>A MANE Select | NP_001067.2:n.*222G>A |