HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94781916G>T , CM000672.2:g.94781916G>T | GRCh38 |
NC_000010.10:g.96541673G>T , CM000672.1:g.96541673G>T | GRCh37 |
NC_000010.9:g.96531663G>T | NCBI36 |
NG_008384.2:g.24211G>T | |
NG_008384.3:g.24236G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.738G>T MANE Select | ENSP00000360372.3:p.Glu246Asp | |
ENST00000645461.1:n.1791G>T | ||
ENST00000371321.7:c.738G>T | ENSP00000360372.3:p.Glu246Asp | |
ENST00000464755.1:c.1501G>T | ENSP00000483243.1:n.1501G>T | |
NM_000769.2:c.738G>T | NP_000760.1:p.Glu246Asp | |
NM_000769.4:c.738G>T MANE Select | NP_000760.1:p.Glu246Asp |