HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652295T= , CM000663.2:g.171652295T= | GRCh38 |
NC_000001.10:g.171621435T= , CM000663.1:g.171621435T= | GRCh37 |
NC_000001.9:g.169888058T= | NCBI36 |
NG_008859.1:g.5339A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.317A= MANE Select | ENSP00000037502.5:p.Gln106= | |
ENST00000638471.1:c.130+187A= | ENSP00000491206.1:n.130+187A= | |
ENST00000037502.10:c.317A= | ENSP00000037502.5:p.Gln106= | |
ENST00000614688.1:c.317A= | ENSP00000478680.1:p.Gln106= | |
NM_000261.1:c.317A= | NP_000252.1:p.Gln106= | |
NM_000261.2:c.317A= MANE Select | NP_000252.1:p.Gln106= |