HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38074872C= , CM000664.2:g.38074872C= | GRCh38 |
NC_000002.11:g.38302015C= , CM000664.1:g.38302015C= | GRCh37 |
NC_000002.10:g.38155519C= | NCBI36 |
NG_008386.2:g.6230G= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000490576.2:c.517G= | ENSP00000478839.2:p.Glu173= | |
ENST00000610745.5:c.517G= MANE Select | ENSP00000478561.1:p.Glu173= | |
ENST00000494864.1:c.-70-3562G= | ENSP00000479876.1:n.-70-3562G= | |
ENST00000610745.4:c.517G= | ENSP00000478561.1:p.Glu173= | |
ENST00000613082.1:n.376-464G= | ||
ENST00000614273.1:c.517G= | ENSP00000483678.1:p.Glu173= | |
NM_000104.3:c.517G= | NP_000095.2:p.Glu173= | |
NM_000104.4:c.517G= MANE Select | NP_000095.2:p.Glu173= |