HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136046348A>G , CM000667.2:g.136046348A>G | GRCh38 |
NC_000005.9:g.135382037A>G , CM000667.1:g.135382037A>G | GRCh37 |
NC_000005.8:g.135409936A>G | NCBI36 |
NG_012646.1:g.22454A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000442011.7:c.312A>G MANE Select | ENSP00000416330.2:p.Ser104= | |
ENST00000442011.6:c.312A>G | ENSP00000416330.2:p.Ser104= | |
ENST00000504185.5:n.469A>G | ||
ENST00000506699.5:n.377A>G | ||
ENST00000507018.5:c.229A>G | ||
ENST00000515433.1:n.604A>G | ||
NM_000358.2:c.312A>G | NP_000349.1:p.Ser104= | |
NM_000358.3:c.312A>G MANE Select | NP_000349.1:p.Ser104= |