HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176093644T>G , CM000664.2:g.176093644T>G | GRCh38 |
NC_000002.11:g.176958372T>G , CM000664.1:g.176958372T>G | GRCh37 |
NC_000002.10:g.176666618T>G | NCBI36 |
NG_008137.1:g.5841T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392539.4:c.754T>G MANE Select | ENSP00000376322.3:p.Ser252Ala | |
ENST00000392539.3:c.754T>G | ENSP00000376322.3:p.Ser252Ala | |
NM_000523.3:c.754T>G | NP_000514.2:p.Ser252Ala | |
XM_011511068.1:c.725-836T>G | XP_011509370.1:n.725-836T>G | |
XM_011511068.2:c.725-836T>G | XP_011509370.1:n.725-836T>G | |
NM_000523.4:c.754T>G MANE Select | NP_000514.2:p.Ser252Ala |