HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713219A>T , CM000681.2:g.6713219A>T | GRCh38 |
NC_000019.9:g.6713230A>T , CM000681.1:g.6713230A>T | GRCh37 |
NC_000019.8:g.6664230A>T | NCBI36 |
NG_009557.1:g.12433T>A , LRG_27:g.12433T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.850T>A | ENSP00000512083.1:p.Tyr284Asn | |
ENST00000695654.1:c.97T>A | ENSP00000512085.1:p.Tyr33Asn | |
ENST00000695692.1:n.297T>A | ||
ENST00000245907.11:c.973T>A MANE Select | ENSP00000245907.4:p.Tyr325Asn | |
ENST00000245907.10:c.973T>A | ENSP00000245907.4:p.Tyr325Asn | |
ENST00000594270.5:n.97T>A | ||
ENST00000595577.1:n.477T>A | ||
ENST00000597442.5:n.223T>A | ||
NM_000064.3:c.973T>A | NP_000055.2:p.Tyr325Asn | |
NM_000064.4:c.973T>A MANE Select | NP_000055.2:p.Tyr325Asn |