HGVS | Genome Assembly |
---|---|
NC_000007.14:g.100122282C>G , CM000669.2:g.100122282C>G | GRCh38 |
NC_000007.13:g.99719905C>G , CM000669.1:g.99719905C>G | GRCh37 |
NC_000007.12:g.99557841C>G | NCBI36 |
NG_029454.1:g.2577G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262932.5:c.142C>G (CNPY4) MANE Select | ENSP00000262932.3:p.Leu48Val | |
ENST00000262932.4:c.142C>G (CNPY4) | ENSP00000262932.3:p.Leu48Val | |
ENST00000462193.2:c.24C>G (CNPY4) | ||
ENST00000480692.4:n.231C>G (CNPY4) | ||
ENST00000483756.5:c.-216C>G (CNPY4) | ENSP00000488362.1:n.-216C>G | |
NM_152755.1:c.142C>G (CNPY4) | NP_689968.1:p.Leu48Val | |
XM_024446896.1:c.-60+4860G>C (TAF6) | XP_024302664.1:n.-60+4860G>C | |
NM_152755.2:c.142C>G (CNPY4) MANE Select | NP_689968.1:p.Leu48Val |