HGVS | Genome Assembly |
---|---|
NC_000005.10:g.140114250C>G , CM000667.2:g.140114250C>G | GRCh38 |
NC_000005.9:g.139493835C>G , CM000667.1:g.139493835C>G | GRCh37 |
NC_000005.8:g.139474019C>G | NCBI36 |
NG_041813.1:g.5128C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331327.5:c.69C>G MANE Select | ENSP00000332706.3:p.His23Gln | |
ENST00000505703.2:c.69C>G | ENSP00000498560.1:p.His23Gln | |
ENST00000651386.1:c.69C>G | ENSP00000499133.1:p.His23Gln | |
ENST00000331327.4:c.69C>G | ENSP00000332706.3:p.His23Gln | |
ENST00000502351.1:n.492C>G | ||
ENST00000505703.1:n.534C>G | ||
NM_005859.4:c.69C>G | NP_005850.1:p.His23Gln | |
NM_005859.5:c.69C>G MANE Select | NP_005850.1:p.His23Gln |