HGVS | Genome Assembly |
---|---|
NC_000014.9:g.36663569C>G , CM000676.2:g.36663569C>G | GRCh38 |
NC_000014.8:g.37132774C>G , CM000676.1:g.37132774C>G | GRCh37 |
NC_000014.7:g.36202525C>G | NCBI36 |
NG_013357.1:g.11002C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361487.7:c.631+46C>G MANE Select | ENSP00000355245.6:n.631+46C>G | |
ENST00000361487.6:c.631+46C>G | ENSP00000355245.6:n.631+46C>G | |
ENST00000402703.6:c.631+46C>G | ENSP00000384817.2:n.631+46C>G | |
ENST00000554201.1:c.70+46C>G | ENSP00000450434.1:n.70+46C>G | |
NM_006194.3:c.631+46C>G | NP_006185.1:n.631+46C>G | |
NM_001372076.1:c.631+46C>G MANE Select | NP_001359005.1:n.631+46C>G | |
NM_006194.4:c.631+46C>G | NP_006185.1:n.631+46C>G |