HGVS | Genome Assembly |
---|---|
NC_000022.11:g.45293260C>G , CM000684.2:g.45293260C>G | GRCh38 |
NC_000022.10:g.45689141C>G , CM000684.1:g.45689141C>G | GRCh37 |
NC_000022.9:g.44067805C>G | NCBI36 |
NG_016203.1:g.13274C>G | |
NG_016203.2:g.13274C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216211.9:c.651C>G MANE Select | ENSP00000216211.4:p.Ser217= | |
ENST00000216211.8:c.651C>G | ENSP00000216211.4:p.Ser217= | |
ENST00000396082.2:c.288C>G | ENSP00000379391.2:p.Ser96= | |
NM_001167574.1:c.288C>G | NP_001161046.1:p.Ser96= | |
NM_006953.3:c.651C>G | NP_008884.1:p.Ser217= | |
XM_011530364.1:c.657C>G | XP_011528666.1:p.Ser219= | |
XM_011530365.1:c.294C>G | XP_011528667.1:p.Ser98= | |
NM_006953.4:c.651C>G MANE Select | NP_008884.1:p.Ser217= | |
NM_001167574.2:c.288C>G | NP_001161046.1:p.Ser96= |