HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189003031T>A , CM000664.2:g.189003031T>A | GRCh38 |
NC_000002.11:g.189867757T>A , CM000664.1:g.189867757T>A | GRCh37 |
NC_000002.10:g.189576002T>A | NCBI36 |
NG_007404.1:g.33659T>A , LRG_3:g.33659T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.2423T>A | ENSP00000415346.2:p.Val808Asp | |
ENST00000304636.9:c.2522T>A MANE Select | ENSP00000304408.4:p.Val841Asp | |
ENST00000304636.7:c.2522T>A | ENSP00000304408.3:p.Val841Asp | |
ENST00000317840.9:c.2522T>A | ENSP00000315243.6:p.Val841Asp | |
NM_000090.3:c.2522T>A , LRG_3t1:c.2522T>A | NP_000081.1:p.Val841Asp | |
NM_000090.4:c.2522T>A MANE Select | NP_000081.2:p.Val841Asp |