HGVS | Genome Assembly |
---|---|
NC_000009.12:g.12695540T>G , CM000671.2:g.12695540T>G | GRCh38 |
NC_000009.11:g.12695540T>G , CM000671.1:g.12695540T>G | GRCh37 |
NC_000009.10:g.12685540T>G | NCBI36 |
NG_011705.1:g.7155T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000388918.10:c.411T>G MANE Select | ENSP00000373570.4:p.Ser137Arg | |
ENST00000388918.9:c.411T>G | ENSP00000373570.4:p.Ser137Arg | |
NM_000550.2:c.411T>G | NP_000541.1:p.Ser137Arg | |
XR_001746372.2:n.600T>G | ||
NM_000550.3:c.411T>G MANE Select | NP_000541.1:p.Ser137Arg |