HGVS | Genome Assembly |
---|---|
NC_000002.12:g.27085258G>A , CM000664.2:g.27085258G>A | GRCh38 |
NC_000002.11:g.27308126G>A , CM000664.1:g.27308126G>A | GRCh37 |
NC_000002.10:g.27161630G>A | NCBI36 |
NG_012199.1:g.3516G>A | |
NG_046849.1:g.11692G>A | |
NG_012199.2:g.3516G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380320.9:c.2674G>A MANE Select | ENSP00000369677.4:p.Val892Ile | |
ENST00000380320.8:c.2674G>A | ENSP00000369677.4:p.Val892Ile | |
ENST00000433140.1:c.666G>A | ||
NM_007046.3:c.2674G>A | NP_008977.1:p.Val892Ile | |
XM_006711928.2:c.2575+250G>A | XP_006711991.1:n.2575+250G>A | |
NM_007046.4:c.2674G>A MANE Select | NP_008977.1:p.Val892Ile |