HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37805079G>A , CM000685.2:g.37805079G>A | GRCh38 |
NC_000023.10:g.37664332G>A , CM000685.1:g.37664332G>A | GRCh37 |
NC_000023.9:g.37549276G>A | NCBI36 |
NG_009065.1:g.30063G>A , LRG_53:g.30063G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696170.1:c.*734G>A | ENSP00000512461.1:n.*734G>A | |
ENST00000696171.1:c.1129G>A | ENSP00000512462.1:p.Ala377Thr | |
ENST00000378588.5:c.1225G>A MANE Select | ENSP00000367851.4:p.Ala409Thr | |
ENST00000378588.4:c.1225G>A | ENSP00000367851.4:p.Ala409Thr | |
ENST00000465127.1:c.171+379079G>A | ENSP00000417050.1:n.171+379079G>A | |
NM_000397.3:c.1225G>A , LRG_53t1:c.1225G>A | NP_000388.2:p.Ala409Thr | |
XM_011543890.1:c.919G>A | XP_011542192.1:p.Ala307Thr | |
NM_000397.4:c.1225G>A MANE Select | NP_000388.2:p.Ala409Thr |