HGVS | Genome Assembly |
---|---|
NC_000002.12:g.188993368T>A , CM000664.2:g.188993368T>A | GRCh38 |
NC_000002.11:g.189858094T>A , CM000664.1:g.189858094T>A | GRCh37 |
NC_000002.10:g.189566339T>A | NCBI36 |
NG_007404.1:g.23996T>A , LRG_3:g.23996T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.1050+428T>A | ENSP00000415346.2:n.1050+428T>A | |
ENST00000304636.9:c.1058T>A MANE Select | ENSP00000304408.4:p.Val353Asp | |
ENST00000304636.7:c.1058T>A | ENSP00000304408.3:p.Val353Asp | |
ENST00000317840.9:c.1058T>A | ENSP00000315243.6:p.Val353Asp | |
ENST00000450867.1:c.148+428T>A | ||
NM_000090.3:c.1058T>A , LRG_3t1:c.1058T>A | NP_000081.1:p.Val353Asp | |
NM_000090.4:c.1058T>A MANE Select | NP_000081.2:p.Val353Asp |