HGVS | Genome Assembly |
---|---|
NC_000005.10:g.23509051C>T , CM000667.2:g.23509051C>T | GRCh38 |
NC_000005.9:g.23509160C>T , CM000667.1:g.23509160C>T | GRCh37 |
NC_000005.8:g.23544917C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000502755.6:c.18C>T | ENSP00000425471.2:p.Ser6= | |
ENST00000296682.4:c.18C>T MANE Select | ENSP00000296682.4:p.Ser6= | |
ENST00000296682.3:c.18C>T | ENSP00000296682.3:p.Ser6= | |
ENST00000502755.5:c.18C>T | ENSP00000425471.1:p.Ser6= | |
ENST00000635252.1:c.17-869C>T | ENSP00000489227.1:n.17-869C>T | |
NM_020227.2:c.18C>T | NP_064612.2:p.Ser6= | |
NM_020227.3:c.18C>T | NP_064612.2:p.Ser6= | |
NM_001376900.1:c.18C>T | NP_001363829.1:p.Ser6= | |
NM_020227.4:c.18C>T MANE Select | NP_064612.2:p.Ser6= |