HGVS | Genome Assembly |
---|---|
NC_000004.12:g.68646668C>T , CM000666.2:g.68646668C>T | GRCh38 |
NC_000004.11:g.69512386C>T , CM000666.1:g.69512386C>T | GRCh37 |
NC_000004.10:g.69194981C>T | NCBI36 |
NG_052676.1:g.29109G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000338206.6:c.*436G>A MANE Select | ENSP00000341045.5:n.*436G>A | |
ENST00000338206.5:c.*436G>A | ENSP00000341045.5:n.*436G>A | |
ENST00000616841.4:c.1732+297G>A | ENSP00000482004.1:n.1732+297G>A | |
NM_001076.3:c.*436G>A | NP_001067.2:n.*436G>A | |
NM_001076.4:c.*436G>A MANE Select | NP_001067.2:n.*436G>A |