HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6718352C>T , CM000681.2:g.6718352C>T | GRCh38 |
NC_000019.9:g.6718363C>T , CM000681.1:g.6718363C>T | GRCh37 |
NC_000019.8:g.6669363C>T | NCBI36 |
NG_009557.1:g.7300G>A , LRG_27:g.7300G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000594936.2:n.389G>A | ||
ENST00000695652.1:c.205G>A | ENSP00000512083.1:p.Ala69Thr | |
ENST00000695693.1:c.328G>A | ENSP00000512104.1:p.Ala110Thr | |
ENST00000245907.11:c.328G>A MANE Select | ENSP00000245907.4:p.Ala110Thr | |
ENST00000245907.10:c.328G>A | ENSP00000245907.4:p.Ala110Thr | |
ENST00000594936.1:n.389G>A | ||
ENST00000600744.1:c.205G>A | ENSP00000472044.1:p.Ala69Thr | |
NM_000064.3:c.328G>A | NP_000055.2:p.Ala110Thr | |
NM_000064.4:c.328G>A MANE Select | NP_000055.2:p.Ala110Thr |