HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47881731C>T , CM000681.2:g.47881731C>T | GRCh38 |
NC_000019.9:g.48384988C>T , CM000681.1:g.48384988C>T | GRCh37 |
NC_000019.8:g.53076800C>T | NCBI36 |
NG_016745.1:g.9667G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222002.4:c.472+353G>A MANE Select | ENSP00000222002.2:n.472+353G>A | |
ENST00000222002.3:c.472+353G>A | ENSP00000222002.2:n.472+353G>A | |
NM_003167.3:c.472+353G>A | NP_003158.2:n.472+353G>A | |
NM_003167.4:c.472+353G>A MANE Select | NP_003158.2:n.472+353G>A |