HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114779G>T , CM000667.2:g.140114779G>T | GRCh38 |
NC_000005.9:g.139494364G>T , CM000667.1:g.139494364G>T | GRCh37 |
NC_000005.8:g.139474548G>T | NCBI36 |
NG_041813.1:g.5657G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331327.5:c.598G>T MANE Select | ENSP00000332706.3:p.Asp200Tyr | |
ENST00000651386.1:c.598G>T | ENSP00000499133.1:p.Asp200Tyr | |
ENST00000331327.4:c.598G>T | ENSP00000332706.3:p.Asp200Tyr | |
NM_005859.4:c.598G>T | NP_005850.1:p.Asp200Tyr | |
NM_005859.5:c.598G>T MANE Select | NP_005850.1:p.Asp200Tyr |