HGVS | Genome Assembly |
---|---|
NC_000005.10:g.71719689A>G , CM000667.2:g.71719689A>G | GRCh38 |
NC_000005.9:g.71015516A>G , CM000667.1:g.71015516A>G | GRCh37 |
NC_000005.8:g.71051272A>G | NCBI36 |
NG_015988.1:g.5527A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296777.5:c.160-191A>G MANE Select | ENSP00000296777.4:n.160-191A>G | |
ENST00000296777.4:c.160-191A>G | ENSP00000296777.4:n.160-191A>G | |
ENST00000513096.1:n.111A>G | ||
NM_004291.3:c.160-191A>G | NP_004282.1:n.160-191A>G | |
NM_004291.4:c.160-191A>G MANE Select | NP_004282.1:n.160-191A>G |