HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39247839G= , CM000681.2:g.39247839G= | GRCh38 |
NC_000019.9:g.39738479G= , CM000681.1:g.39738479G= | GRCh37 |
NC_000019.8:g.44430319G= | NCBI36 |
NG_042193.1:g.2133C= | |
NG_055295.1:g.6018C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000606380.2:c.236C= | ENSP00000476098.1:p.Ala79= | |
ENST00000610963.1:c.235C= | ENSP00000481371.1:p.Leu79= | |
ENST00000616270.4:c.223+85C= | ENSP00000480679.1:n.223+85C= | |
ENST00000634680.1:c.152-376C= | ENSP00000489240.1:n.152-376C= | |
ENST00000634967.1:c.223+85C= | ENSP00000489559.1:n.223+85C= | |
NR_074079.1:n.513C= |