HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39248256G= , CM000681.2:g.39248256G= | GRCh38 |
NC_000019.9:g.39738896G= , CM000681.1:g.39738896G= | GRCh37 |
NC_000019.8:g.44430736G= | NCBI36 |
NG_042193.1:g.1716C= | |
NG_055295.1:g.5601C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000606380.2:c.151+173C= | ENSP00000476098.1:n.151+173C= | |
ENST00000610963.1:c.150+173C= | ENSP00000481371.1:n.150+173C= | |
ENST00000616270.4:c.151+173C= | ENSP00000480679.1:n.151+173C= | |
ENST00000634680.1:c.151+173C= | ENSP00000489240.1:n.151+173C= | |
ENST00000634967.1:c.151+173C= | ENSP00000489559.1:n.151+173C= | |
NR_074079.1:n.428+173C= |