HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816729C>A , CM000681.2:g.4816729C>A | GRCh38 |
NC_000019.9:g.4816741C>A , CM000681.1:g.4816741C>A | GRCh37 |
NC_000019.8:g.4767741C>A | NCBI36 |
NG_031998.1:g.20014G>T , LRG_358:g.20014G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.1649G>T MANE Select | ENSP00000248244.4:p.Arg550Leu | |
ENST00000248244.5:c.1649G>T | ENSP00000248244.4:p.Arg550Leu | |
ENST00000621756.1:c.1232G>T | ENSP00000479467.1:p.Arg411Leu | |
NM_182919.3:c.1649G>T , LRG_358t1:c.1649G>T | NP_891549.1:p.Arg550Leu | |
NM_001385678.1:c.1607G>T | NP_001372607.1:p.Arg536Leu | |
NM_001385679.1:c.1514G>T | NP_001372608.1:p.Arg505Leu | |
NM_001385680.1:c.1007G>T | NP_001372609.1:p.Arg336Leu | |
NM_182919.4:c.1649G>T MANE Select | NP_891549.1:p.Arg550Leu |