HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39247717C= , CM000681.2:g.39247717C= | GRCh38 |
NC_000019.9:g.39738357C= , CM000681.1:g.39738357C= | GRCh37 |
NC_000019.8:g.44430197C= | NCBI36 |
NG_042193.1:g.2255G= | |
NG_055295.1:g.6140G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000606380.2:c.358G= | ENSP00000476098.1:p.Gly120= | |
ENST00000610963.1:c.357G= | ENSP00000481371.1:p.Val119= | |
ENST00000616270.4:c.224-51G= | ENSP00000480679.1:n.224-51G= | |
ENST00000634680.1:c.152-254G= | ENSP00000489240.1:n.152-254G= | |
ENST00000634967.1:c.223+207G= | ENSP00000489559.1:n.223+207G= | |
NR_074079.1:n.635G= |