HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1232606G>T , CM000663.2:g.1232606G>T | GRCh38 |
NC_000001.10:g.1167986G>T , CM000663.1:g.1167986G>T | GRCh37 |
NC_000001.9:g.1157849G>T | NCBI36 |
NG_030007.1:g.4462C>A | |
NG_033265.1:g.5358G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379198.5:c.328G>T MANE Select | ENSP00000368496.2:p.Glu110Ter | |
ENST00000379198.3:c.328G>T | ENSP00000368496.2:p.Glu110Ter | |
NM_080605.3:c.328G>T | NP_542172.2:p.Glu110Ter | |
NM_080605.4:c.328G>T MANE Select | NP_542172.2:p.Glu110Ter |