HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189010792G>A , CM000664.2:g.189010792G>A | GRCh38 |
NC_000002.11:g.189875518G>A , CM000664.1:g.189875518G>A | GRCh37 |
NC_000002.10:g.189583763G>A | NCBI36 |
NG_007404.1:g.41420G>A , LRG_3:g.41420G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000450867.2:c.4057G>A | ENSP00000415346.2:p.Val1353Ile | |
ENST00000304636.9:c.4156G>A MANE Select | ENSP00000304408.4:p.Val1386Ile | |
ENST00000304636.7:c.4156G>A | ENSP00000304408.3:p.Val1386Ile | |
ENST00000317840.9:c.3247G>A | ENSP00000315243.6:p.Val1083Ile | |
ENST00000487010.1:n.1535G>A | ||
NM_000090.3:c.4156G>A , LRG_3t1:c.4156G>A | NP_000081.1:p.Val1386Ile | |
NM_000090.4:c.4156G>A MANE Select | NP_000081.2:p.Val1386Ile |