HGVS | Genome Assembly |
---|---|
NC_000005.10:g.157471608T>G , CM000667.2:g.157471608T>G | GRCh38 |
NC_000005.9:g.156898616T>G , CM000667.1:g.156898616T>G | GRCh37 |
NC_000005.8:g.156831194T>G | NCBI36 |
NG_016626.1:g.16590T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311946.8:c.426-49T>G (NIPAL4) MANE Select | ENSP00000311687.8:n.426-49T>G | |
ENST00000435489.7:c.369-49T>G (NIPAL4) | ENSP00000406456.3:n.369-49T>G | |
ENST00000311946.7:c.612-49T>G (NIPAL4) | ENSP00000311687.7:n.612-49T>G | |
ENST00000435489.6:c.555-49T>G (NIPAL4) | ENSP00000406456.2:n.555-49T>G | |
ENST00000517951.5:c.*1741+16657A>C (ADAM19) | ENSP00000428376.1:n.*1741+16657A>C | |
ENST00000519150.1:c.524-49T>G (NIPAL4) | ENSP00000430810.1:n.524-49T>G | |
NM_001099287.1:c.612-49T>G (NIPAL4) | NP_001092757.1:n.612-49T>G | |
NM_001172292.1:c.555-49T>G (NIPAL4) | NP_001165763.1:n.555-49T>G | |
XM_011534552.1:c.117-49T>G (NIPAL4) | XP_011532854.1:n.117-49T>G | |
XM_024446043.1:c.-88-49T>G (NIPAL4) | XP_024301811.1:n.-88-49T>G | |
NM_001099287.2:c.426-49T>G (NIPAL4) MANE Select | NP_001092757.2:n.426-49T>G |