HGVS | Genome Assembly |
---|---|
NC_000021.9:g.46001375G>T , CM000683.2:g.46001375G>T | GRCh38 |
NC_000021.8:g.47421289G>T , CM000683.1:g.47421289G>T | GRCh37 |
NC_000021.7:g.46245717G>T | NCBI36 |
NG_008674.1:g.24627G>T , LRG_475:g.24627G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463060.6:n.344G>T | ||
ENST00000612273.2:c.71G>T | ||
ENST00000682634.1:c.71G>T | ||
ENST00000361866.8:c.1945G>T MANE Select | ENSP00000355180.3:p.Glu649Ter | |
ENST00000361866.7:c.1945G>T | ENSP00000355180.3:p.Glu649Ter | |
ENST00000463060.5:n.344G>T | ||
ENST00000498614.5:n.179G>T | ||
ENST00000612273.1:c.1939G>T | ENSP00000483630.1:p.Glu647Ter | |
NM_001848.2:c.1945G>T , LRG_475t1:c.1945G>T | NP_001839.2:p.Glu649Ter | |
NM_001848.3:c.1945G>T MANE Select | NP_001839.2:p.Glu649Ter |