HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132452G>T , CM000669.2:g.147132452G>T | GRCh38 |
NC_000007.13:g.146829544G>T , CM000669.1:g.146829544G>T | GRCh37 |
NC_000007.12:g.146460477G>T | NCBI36 |
NG_007092.2:g.1021092G>T | |
NG_007092.3:g.1021452G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1291G>T MANE Select | ENSP00000354778.3:p.Val431Leu | |
ENST00000636561.1:n.1194G>T | ||
ENST00000636870.1:n.1153G>T | ||
ENST00000637150.1:n.1220G>T | ||
ENST00000637694.1:n.1194G>T | ||
ENST00000637825.1:n.774G>T | ||
ENST00000638117.1:n.1194G>T | ||
ENST00000361727.7:c.1291G>T | ENSP00000354778.3:p.Val431Leu | |
NM_014141.5:c.1291G>T | NP_054860.1:p.Val431Leu | |
XM_017011950.2:c.1291G>T | XP_016867439.1:p.Val431Leu | |
NM_014141.6:c.1291G>T MANE Select | NP_054860.1:p.Val431Leu |