HGVS | Genome Assembly |
---|---|
NC_000019.10:g.51006518A>G , CM000681.2:g.51006518A>G | GRCh38 |
NC_000019.9:g.51509774A>G , CM000681.1:g.51509774A>G | GRCh37 |
NC_000019.8:g.56201586A>G | NCBI36 |
NG_027832.1:g.8117T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000594211.2:c.406T>C MANE Select | ENSP00000469417.1:p.Cys136Arg | |
ENST00000250366.6:c.406T>C | ENSP00000250366.5:p.Cys136Arg | |
ENST00000544410.1:c.*63T>C | ENSP00000443289.1:n.*63T>C | |
ENST00000594211.1:c.406T>C | ENSP00000469417.1:p.Cys136Arg | |
NM_012315.1:c.406T>C | NP_036447.1:p.Cys136Arg | |
NM_012315.2:c.406T>C MANE Select | NP_036447.1:p.Cys136Arg |