HGVS | Genome Assembly |
---|---|
NC_000005.10:g.135952948A>G , CM000667.2:g.135952948A>G | GRCh38 |
NC_000005.9:g.135288637A>G , CM000667.1:g.135288637A>G | GRCh37 |
NC_000005.8:g.135316536A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000274507.6:c.66T>C MANE Select | ENSP00000274507.1:p.Ala22= | |
ENST00000274507.5:c.66T>C | ENSP00000274507.1:p.Ala22= | |
ENST00000471827.1:n.169T>C | ||
ENST00000512872.1:c.-151T>C | ENSP00000427012.1:n.-151T>C | |
ENST00000514447.2:c.66T>C | ENSP00000421123.2:p.Ala22= | |
ENST00000522943.5:c.66T>C | ENSP00000429618.1:p.Ala22= | |
NM_002302.2:c.66T>C | NP_002293.2:p.Ala22= | |
NM_002302.3:c.66T>C MANE Select | NP_002293.2:p.Ala22= |