HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132453T>G , CM000669.2:g.147132453T>G | GRCh38 |
NC_000007.13:g.146829545T>G , CM000669.1:g.146829545T>G | GRCh37 |
NC_000007.12:g.146460478T>G | NCBI36 |
NG_007092.2:g.1021093T>G | |
NG_007092.3:g.1021453T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1292T>G MANE Select | ENSP00000354778.3:p.Val431Gly | |
ENST00000636561.1:n.1195T>G | ||
ENST00000636870.1:n.1154T>G | ||
ENST00000637150.1:n.1221T>G | ||
ENST00000637694.1:n.1195T>G | ||
ENST00000637825.1:n.775T>G | ||
ENST00000638117.1:n.1195T>G | ||
ENST00000361727.7:c.1292T>G | ENSP00000354778.3:p.Val431Gly | |
NM_014141.5:c.1292T>G | NP_054860.1:p.Val431Gly | |
XM_017011950.2:c.1292T>G | XP_016867439.1:p.Val431Gly | |
NM_014141.6:c.1292T>G MANE Select | NP_054860.1:p.Val431Gly |