HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766038A>G , CM000674.2:g.57766038A>G | GRCh38 |
NC_000012.11:g.58159821A>G , CM000674.1:g.58159821A>G | GRCh37 |
NC_000012.10:g.56446088A>G | NCBI36 |
NG_007076.1:g.6156T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000546609.2:n.267T>C | ||
ENST00000713544.1:c.355T>C | ENSP00000518840.1:p.Cys119Arg | |
ENST00000713545.1:c.355T>C | ENSP00000518841.1:p.Cys119Arg | |
ENST00000228606.9:c.355T>C MANE Select | ENSP00000228606.4:p.Cys119Arg | |
ENST00000228606.8:c.355T>C | ENSP00000228606.4:p.Cys119Arg | |
ENST00000546496.1:n.183T>C | ||
ENST00000546609.1:c.267T>C | ||
ENST00000547344.5:n.409T>C | ||
ENST00000552186.1:n.474T>C | ||
NM_000785.3:c.355T>C | NP_000776.1:p.Cys119Arg | |
NM_000785.4:c.355T>C MANE Select | NP_000776.1:p.Cys119Arg |