HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19116532G= , CM000669.2:g.19116532G= | GRCh38 |
NC_000007.13:g.19156155G= , CM000669.1:g.19156155G= | GRCh37 |
NC_000007.12:g.19122680G= | NCBI36 |
NG_008114.1:g.6141C= | |
NG_008114.2:g.6141C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.*42+139C= MANE Select | ENSP00000242261.5:n.*42+139C= | |
ENST00000242261.5:c.*42+139C= | ENSP00000242261.5:n.*42+139C= | |
ENST00000354571.5:c.448+139C= | ||
ENST00000443687.5:c.254+139C= | ||
NM_000474.3:c.*42+139C= | NP_000465.1:n.*42+139C= | |
XM_011515496.1:c.*42+139C= | XP_011513798.1:n.*42+139C= | |
NR_149001.1:n.1002+139C= | ||
NM_000474.4:c.*42+139C= MANE Select | NP_000465.1:n.*42+139C= | |
NR_149001.2:n.966+139C= |