HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39247880G= , CM000681.2:g.39247880G= | GRCh38 |
NC_000019.9:g.39738520G= , CM000681.1:g.39738520G= | GRCh37 |
NC_000019.8:g.44430360G= | NCBI36 |
NG_042193.1:g.2092C= | |
NG_055295.1:g.5977C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000606380.2:c.224-29C= | ENSP00000476098.1:n.224-29C= | |
ENST00000610963.1:c.223-29C= | ENSP00000481371.1:n.223-29C= | |
ENST00000616270.4:c.223+44C= | ENSP00000480679.1:n.223+44C= | |
ENST00000634680.1:c.152-417C= | ENSP00000489240.1:n.152-417C= | |
ENST00000634967.1:c.223+44C= | ENSP00000489559.1:n.223+44C= | |
NR_074079.1:n.501-29C= |