HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57763660C>G , CM000674.2:g.57763660C>G | GRCh38 |
NC_000012.11:g.58157443C>G , CM000674.1:g.58157443C>G | GRCh37 |
NC_000012.10:g.56443710C>G | NCBI36 |
NG_007076.1:g.8534G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1445G>C | ENSP00000518840.1:p.Cys482Ser | |
ENST00000713545.1:c.*369G>C | ENSP00000518841.1:n.*369G>C | |
ENST00000228606.9:c.1364G>C MANE Select | ENSP00000228606.4:p.Cys455Ser | |
ENST00000228606.8:c.1364G>C | ENSP00000228606.4:p.Cys455Ser | |
ENST00000547344.5:n.1503G>C | ||
NM_000785.3:c.1364G>C | NP_000776.1:p.Cys455Ser | |
NM_000785.4:c.1364G>C MANE Select | NP_000776.1:p.Cys455Ser |