HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57763714C>A , CM000674.2:g.57763714C>A | GRCh38 |
NC_000012.11:g.58157497C>A , CM000674.1:g.58157497C>A | GRCh37 |
NC_000012.10:g.56443764C>A | NCBI36 |
NG_007076.1:g.8480G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1391G>T | ENSP00000518840.1:p.Gly464Val | |
ENST00000713545.1:c.*315G>T | ENSP00000518841.1:n.*315G>T | |
ENST00000228606.9:c.1310G>T MANE Select | ENSP00000228606.4:p.Gly437Val | |
ENST00000228606.8:c.1310G>T | ENSP00000228606.4:p.Gly437Val | |
ENST00000547344.5:n.1449G>T | ||
NM_000785.3:c.1310G>T | NP_000776.1:p.Gly437Val | |
NM_000785.4:c.1310G>T MANE Select | NP_000776.1:p.Gly437Val |