HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652296G>C , CM000663.2:g.171652296G>C | GRCh38 |
NC_000001.10:g.171621436G>C , CM000663.1:g.171621436G>C | GRCh37 |
NC_000001.9:g.169888059G>C | NCBI36 |
NG_008859.1:g.5338C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000037502.11:c.316C>G MANE Select | ENSP00000037502.5:p.Gln106Glu | |
ENST00000638471.1:c.130+186C>G | ENSP00000491206.1:n.130+186C>G | |
ENST00000037502.10:c.316C>G | ENSP00000037502.5:p.Gln106Glu | |
ENST00000614688.1:c.316C>G | ENSP00000478680.1:p.Gln106Glu | |
NM_000261.1:c.316C>G | NP_000252.1:p.Gln106Glu | |
NM_000261.2:c.316C>G MANE Select | NP_000252.1:p.Gln106Glu |