HGVS | Genome Assembly |
---|---|
NC_000007.14:g.129213122T>A , CM000669.2:g.129213122T>A | GRCh38 |
NC_000007.13:g.128852963T>A , CM000669.1:g.128852963T>A | GRCh37 |
NC_000007.12:g.128640199T>A | NCBI36 |
NG_023340.1:g.29251T>A | |
NG_023340.2:g.29251T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000249373.8:c.*671T>A MANE Select | ENSP00000249373.3:n.*671T>A | |
ENST00000655644.1:c.*2790T>A | ENSP00000499377.1:n.*2790T>A | |
ENST00000249373.7:c.*671T>A | ENSP00000249373.3:n.*671T>A | |
NM_005631.4:c.*671T>A | NP_005622.1:n.*671T>A | |
XM_011516522.1:c.*671T>A | XP_011514824.1:n.*671T>A | |
XM_024446891.1:c.*671T>A | XP_024302659.1:n.*671T>A | |
NM_005631.5:c.*671T>A MANE Select | NP_005622.1:n.*671T>A |