HGVS | Genome Assembly |
---|---|
NC_000010.11:g.97598909C= , CM000672.2:g.97598909C= | GRCh38 |
NC_000010.10:g.99358666C= , CM000672.1:g.99358666C= | GRCh37 |
NC_000010.9:g.99348656C= | NCBI36 |
NG_027922.1:g.19565C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370646.9:c.340+6C= MANE Select | ENSP00000359680.4:n.340+6C= | |
ENST00000370646.8:c.340+6C= | ENSP00000359680.4:n.340+6C= | |
ENST00000370647.8:c.212-2948C= | ENSP00000359681.4:n.212-2948C= | |
ENST00000370649.3:c.212-2948C= | ENSP00000359683.3:n.212-2948C= | |
ENST00000465608.1:n.721+6C= | ||
NM_001134670.1:c.212-2948C= | NP_001128142.1:n.212-2948C= | |
NM_138413.3:c.340+6C= | NP_612422.2:n.340+6C= | |
NM_138413.4:c.340+6C= MANE Select | NP_612422.2:n.340+6C= | |
NM_001134670.2:c.212-2948C= | NP_001128142.1:n.212-2948C= |