HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816261T>A , CM000681.2:g.4816261T>A | GRCh38 |
NC_000019.9:g.4816273T>A , CM000681.1:g.4816273T>A | GRCh37 |
NC_000019.8:g.4767273T>A | NCBI36 |
NG_031998.1:g.20482A>T , LRG_358:g.20482A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.2117A>T MANE Select | ENSP00000248244.4:p.Asp706Val | |
ENST00000248244.5:c.2117A>T | ENSP00000248244.4:p.Asp706Val | |
ENST00000621756.1:c.1619A>T | ENSP00000479467.1:p.Asp540Val | |
NM_182919.3:c.2117A>T , LRG_358t1:c.2117A>T | NP_891549.1:p.Asp706Val | |
NM_001385678.1:c.2075A>T | NP_001372607.1:p.Asp692Val | |
NM_001385679.1:c.1982A>T | NP_001372608.1:p.Asp661Val | |
NM_001385680.1:c.1475A>T | NP_001372609.1:p.Asp492Val | |
NM_182919.4:c.2117A>T MANE Select | NP_891549.1:p.Asp706Val |