HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764157C>A , CM000674.2:g.57764157C>A | GRCh38 |
NC_000012.11:g.58157940C>A , CM000674.1:g.58157940C>A | GRCh37 |
NC_000012.10:g.56444207C>A | NCBI36 |
NG_007076.1:g.8037G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1237G>T | ENSP00000518840.1:p.Gly413Ter | |
ENST00000713545.1:c.*161G>T | ENSP00000518841.1:n.*161G>T | |
ENST00000228606.9:c.1156G>T MANE Select | ENSP00000228606.4:p.Gly386Ter | |
ENST00000228606.8:c.1156G>T | ENSP00000228606.4:p.Gly386Ter | |
ENST00000546567.5:c.451G>T | ENSP00000449472.1:p.Gly151Ter | |
ENST00000547344.5:n.1295G>T | ||
NM_000785.3:c.1156G>T | NP_000776.1:p.Gly386Ter | |
NM_000785.4:c.1156G>T MANE Select | NP_000776.1:p.Gly386Ter |