HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19116966T= , CM000669.2:g.19116966T= | GRCh38 |
NC_000007.13:g.19156589T= , CM000669.1:g.19156589T= | GRCh37 |
NC_000007.12:g.19123114T= | NCBI36 |
NG_008114.1:g.5707A= | |
NG_008114.2:g.5707A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.356A= MANE Select | ENSP00000242261.5:p.Gln119= | |
ENST00000242261.5:c.356A= | ENSP00000242261.5:p.Gln119= | |
ENST00000354571.5:c.153A= | ||
NM_000474.3:c.356A= | NP_000465.1:p.Gln119= | |
XM_011515496.1:c.356A= | XP_011513798.1:p.Gln119= | |
NR_149001.1:n.707A= | ||
NM_000474.4:c.356A= MANE Select | NP_000465.1:p.Gln119= | |
NR_149001.2:n.671A= |