HGVS | Genome Assembly |
---|---|
NC_000011.10:g.637622C>T , CM000673.2:g.637622C>T | GRCh38 |
NC_000011.9:g.637622C>T , CM000673.1:g.637622C>T | GRCh37 |
NC_000011.8:g.627622C>T | NCBI36 |
NG_021241.1:g.5318C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000176183.6:c.285+33C>T MANE Select | ENSP00000176183.5:n.285+33C>T | |
ENST00000176183.5:c.285+33C>T | ENSP00000176183.5:n.285+33C>T | |
NM_000797.3:c.285+33C>T | NP_000788.2:n.285+33C>T | |
NM_000797.4:c.285+33C>T MANE Select | NP_000788.2:n.285+33C>T |