HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50697344C= , CM000684.2:g.50697344C= | GRCh38 |
NC_000022.10:g.51135772C= , CM000684.1:g.51135772C= | GRCh37 |
NC_000022.9:g.49482638C= | NCBI36 |
NG_008607.2:g.27703C= | |
NG_070230.1:g.32922C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262795.7:c.948-220C= | ENSP00000489147.2:n.948-220C= | |
ENST00000414786.7:n.1532-220C= | ||
ENST00000673971.2:c.1305-220C= | ENSP00000501192.1:n.1305-220C= | |
ENST00000262795.6:c.948-220C= | ENSP00000489147.2:n.948-220C= | |
ENST00000673971.1:c.1305-220C= | ENSP00000501192.1:n.1305-220C= | |
ENST00000262795.5:c.1344+77C= | ENSP00000489147.1:n.1344+77C= | |
ENST00000414786.6:n.1532-220C= | ||
ENST00000445220.5:c.1326-220C= | ENSP00000489407.1:n.1326-220C= |