HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57764449G>T , CM000674.2:g.57764449G>T | GRCh38 |
NC_000012.11:g.58158232G>T , CM000674.1:g.58158232G>T | GRCh37 |
NC_000012.10:g.56444499G>T | NCBI36 |
NG_007076.1:g.7745C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1146C>A | ENSP00000518840.1:p.Ser382= | |
ENST00000713545.1:c.*70C>A | ENSP00000518841.1:n.*70C>A | |
ENST00000228606.9:c.1065C>A MANE Select | ENSP00000228606.4:p.Ser355= | |
ENST00000228606.8:c.1065C>A | ENSP00000228606.4:p.Ser355= | |
ENST00000546567.5:c.360C>A | ENSP00000449472.1:p.Ser120= | |
ENST00000547344.5:n.1204C>A | ||
NM_000785.3:c.1065C>A | NP_000776.1:p.Ser355= | |
NM_000785.4:c.1065C>A MANE Select | NP_000776.1:p.Ser355= |