HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52519923C>A , CM000674.2:g.52519923C>A | GRCh38 |
NC_000012.11:g.52913707C>A , CM000674.1:g.52913707C>A | GRCh37 |
NC_000012.10:g.51199974C>A | NCBI36 |
NG_008297.1:g.5537G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.374G>T MANE Select | ENSP00000252242.4:p.Gly125Val | |
ENST00000252242.8:c.374G>T | ENSP00000252242.4:p.Gly125Val | |
ENST00000546577.1:c.374G>T | ENSP00000449651.1:p.Gly125Val | |
ENST00000549420.1:c.44G>T | ENSP00000447209.1:p.Arg15Leu | |
ENST00000551275.1:c.269G>T | ENSP00000448041.1:p.Gly90Val | |
ENST00000552629.5:n.472G>T | ||
NM_000424.3:c.374G>T | NP_000415.2:p.Gly125Val | |
NM_000424.4:c.374G>T MANE Select | NP_000415.2:p.Gly125Val |