HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740731G>T , CM000666.2:g.67740731G>T | GRCh38 |
NC_000004.11:g.68606449G>T , CM000666.1:g.68606449G>T | GRCh37 |
NC_000004.10:g.68289044G>T | NCBI36 |
NG_009293.1:g.20356C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.743-7C>A MANE Select | ENSP00000226413.5:n.743-7C>A | |
ENST00000226413.4:c.743-7C>A | ENSP00000226413.4:n.743-7C>A | |
ENST00000420975.2:c.615-7C>A | ENSP00000397561.2:n.615-7C>A | |
NM_000406.2:c.743-7C>A | NP_000397.1:n.743-7C>A | |
NM_001012763.1:c.615-7C>A | NP_001012781.1:n.615-7C>A | |
NM_000406.3:c.743-7C>A MANE Select | NP_000397.1:n.743-7C>A | |
NM_001012763.2:c.615-7C>A | NP_001012781.1:n.615-7C>A |