HGVS | Genome Assembly |
---|---|
NC_000021.9:g.46001355T>G , CM000683.2:g.46001355T>G | GRCh38 |
NC_000021.8:g.47421269T>G , CM000683.1:g.47421269T>G | GRCh37 |
NC_000021.7:g.46245697T>G | NCBI36 |
NG_008674.1:g.24607T>G , LRG_475:g.24607T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463060.6:n.324T>G | ||
ENST00000612273.2:c.51T>G | ||
ENST00000682634.1:c.51T>G | ||
ENST00000361866.8:c.1925T>G MANE Select | ENSP00000355180.3:p.Ile642Ser | |
ENST00000361866.7:c.1925T>G | ENSP00000355180.3:p.Ile642Ser | |
ENST00000463060.5:n.324T>G | ||
ENST00000498614.5:n.159T>G | ||
ENST00000612273.1:c.1919T>G | ENSP00000483630.1:p.Ile640Ser | |
NM_001848.2:c.1925T>G , LRG_475t1:c.1925T>G | NP_001839.2:p.Ile642Ser | |
NM_001848.3:c.1925T>G MANE Select | NP_001839.2:p.Ile642Ser |