HGVS | Genome Assembly |
---|---|
NC_000007.14:g.147132733G= , CM000669.2:g.147132733G= | GRCh38 |
NC_000007.13:g.146829825G= , CM000669.1:g.146829825G= | GRCh37 |
NC_000007.12:g.146460758G= | NCBI36 |
NG_007092.2:g.1021373G= | |
NG_007092.3:g.1021733G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361727.8:c.1348+224G= MANE Select | ENSP00000354778.3:n.1348+224G= | |
ENST00000636561.1:n.1251+224G= | ||
ENST00000636870.1:n.1210+224G= | ||
ENST00000637150.1:n.1277+224G= | ||
ENST00000637694.1:n.1251+224G= | ||
ENST00000637825.1:n.831+224G= | ||
ENST00000638117.1:n.1251+224G= | ||
ENST00000361727.7:c.1348+224G= | ENSP00000354778.3:n.1348+224G= | |
NM_014141.5:c.1348+224G= | NP_054860.1:n.1348+224G= | |
XM_017011950.2:c.1348+224G= | XP_016867439.1:n.1348+224G= | |
NM_014141.6:c.1348+224G= MANE Select | NP_054860.1:n.1348+224G= |