HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132484G>A , CM000669.2:g.147132484G>A | GRCh38 |
NC_000007.13:g.146829576G>A , CM000669.1:g.146829576G>A | GRCh37 |
NC_000007.12:g.146460509G>A | NCBI36 |
NG_007092.2:g.1021124G>A | |
NG_007092.3:g.1021484G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1323G>A MANE Select | ENSP00000354778.3:p.Lys441= | |
ENST00000636561.1:n.1226G>A | ||
ENST00000636870.1:n.1185G>A | ||
ENST00000637150.1:n.1252G>A | ||
ENST00000637694.1:n.1226G>A | ||
ENST00000637825.1:n.806G>A | ||
ENST00000638117.1:n.1226G>A | ||
ENST00000361727.7:c.1323G>A | ENSP00000354778.3:p.Lys441= | |
NM_014141.5:c.1323G>A | NP_054860.1:p.Lys441= | |
XM_017011950.2:c.1323G>A | XP_016867439.1:p.Lys441= | |
NM_014141.6:c.1323G>A MANE Select | NP_054860.1:p.Lys441= |