HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176093664C>G , CM000664.2:g.176093664C>G | GRCh38 |
NC_000002.11:g.176958392C>G , CM000664.1:g.176958392C>G | GRCh37 |
NC_000002.10:g.176666638C>G | NCBI36 |
NG_008137.1:g.5861C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392539.4:c.774C>G MANE Select | ENSP00000376322.3:p.Ser258= | |
ENST00000392539.3:c.774C>G | ENSP00000376322.3:p.Ser258= | |
NM_000523.3:c.774C>G | NP_000514.2:p.Ser258= | |
XM_011511068.1:c.725-816C>G | XP_011509370.1:n.725-816C>G | |
XM_011511068.2:c.725-816C>G | XP_011509370.1:n.725-816C>G | |
NM_000523.4:c.774C>G MANE Select | NP_000514.2:p.Ser258= |