HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2445315C>G , CM000673.2:g.2445315C>G | GRCh38 |
NC_000011.9:g.2466545C>G , CM000673.1:g.2466545C>G | GRCh37 |
NC_000011.8:g.2423121C>G | NCBI36 |
NG_008935.1:g.5325C>G , LRG_287:g.5325C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000496887.7:c.24-68C>G | ENSP00000434560.2:n.24-68C>G | |
ENST00000646564.2:c.217C>G | ENSP00000495806.2:p.Pro73Ala | |
ENST00000155840.12:c.217C>G MANE Select | ENSP00000155840.2:p.Pro73Ala | |
ENST00000155840.9:c.217C>G | ENSP00000155840.2:p.Pro73Ala | |
ENST00000496887.6:c.24-68C>G | ENSP00000434560.1:n.24-68C>G | |
NM_000218.2:c.217C>G , LRG_287t1:c.217C>G | NP_000209.2:p.Pro73Ala | |
NM_000218.3:c.217C>G MANE Select | NP_000209.2:p.Pro73Ala |