HGVS | Genome Assembly |
---|---|
NC_000002.12:g.71124347A= , CM000664.2:g.71124347A= | GRCh38 |
NC_000002.11:g.71351477A= , CM000664.1:g.71351477A= | GRCh37 |
NC_000002.10:g.71204985A= | NCBI36 |
NG_008977.1:g.10918T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000244217.6:c.237T= MANE Select | ENSP00000244217.5:p.Leu79= | |
ENST00000244217.5:c.237T= | ENSP00000244217.5:p.Leu79= | |
ENST00000413592.5:c.84+21T= | ENSP00000391140.1:n.84+21T= | |
ENST00000486135.1:c.-49T= | ENSP00000441569.1:n.-49T= | |
ENST00000494660.6:c.-49T= | ENSP00000437361.1:n.-49T= | |
NM_032601.3:c.237T= | NP_115990.3:p.Leu79= | |
XM_005264613.2:c.216+21T= | XP_005264670.1:n.216+21T= | |
XR_939729.1:n.306T= | ||
XR_939729.2:n.306T= | ||
NM_032601.4:c.237T= MANE Select | NP_115990.3:p.Leu79= |