HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81648780C>A , CM000665.2:g.81648780C>A | GRCh38 |
NC_000003.11:g.81697931C>A , CM000665.1:g.81697931C>A | GRCh37 |
NC_000003.10:g.81780621C>A | NCBI36 |
NG_011810.1:g.118021G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000429644.7:c.691+76G>T MANE Select | ENSP00000410833.2:n.691+76G>T | |
ENST00000429644.6:c.691+76G>T | ENSP00000410833.2:n.691+76G>T | |
ENST00000489715.1:c.568+76G>T | ENSP00000419638.1:n.568+76G>T | |
ENST00000498468.1:n.219+76G>T | ||
NM_000158.3:c.691+76G>T | NP_000149.3:n.691+76G>T | |
NM_000158.4:c.691+76G>T MANE Select | NP_000149.4:n.691+76G>T |