HGVS | Genome Assembly |
---|---|
NC_000001.11:g.168293275G>T , CM000663.2:g.168293275G>T | GRCh38 |
NC_000001.10:g.168262513G>T , CM000663.1:g.168262513G>T | GRCh37 |
NC_000001.9:g.166529137G>T | NCBI36 |
NG_008244.1:g.17236G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367821.8:c.600G>T MANE Select | ENSP00000356795.3:p.Glu200Asp | |
ENST00000367821.7:c.600G>T | ENSP00000356795.3:p.Glu200Asp | |
ENST00000431969.5:c.397G>T | ||
NM_005149.2:c.600G>T | NP_005140.1:p.Glu200Asp | |
NM_005149.3:c.600G>T MANE Select | NP_005140.1:p.Glu200Asp |