HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39247644G>A , CM000681.2:g.39247644G>A | GRCh38 |
NC_000019.9:g.39738284G>A , CM000681.1:g.39738284G>A | GRCh37 |
NC_000019.8:g.44430124G>A | NCBI36 |
NG_042193.1:g.2328C>T | |
NG_055295.1:g.6213C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000606380.2:c.367+64C>T | ENSP00000476098.1:n.367+64C>T | |
ENST00000610963.1:c.366+64C>T | ENSP00000481371.1:n.366+64C>T | |
ENST00000616270.4:c.246C>T | ENSP00000480679.1:p.His82= | |
ENST00000634680.1:c.152-181C>T | ENSP00000489240.1:n.152-181C>T | |
ENST00000634967.1:c.224-181C>T | ENSP00000489559.1:n.224-181C>T | |
NR_074079.1:n.644+64C>T |