HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270355C>A , CM000668.2:g.31270355C>A | GRCh38 |
NC_000006.11:g.31238132C>A , CM000668.1:g.31238132C>A | GRCh37 |
NC_000006.10:g.31346111C>A | NCBI36 |
NG_029422.2:g.6777G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.750G>T MANE Select | ENSP00000365402.5:p.Gln250His | |
ENST00000376228.9:c.750G>T | ENSP00000365402.5:p.Gln250His | |
ENST00000376237.8:c.*337G>T | ENSP00000365412.4:n.*337G>T | |
ENST00000383329.7:c.750G>T | ENSP00000372819.3:p.Gln250His | |
ENST00000415537.1:c.665-24G>T | ||
ENST00000470363.5:n.68G>T | ||
ENST00000487245.5:n.1109G>T | ||
ENST00000495835.1:n.939G>T | ||
NM_002117.5:c.750G>T | NP_002108.4:p.Gln250His | |
NM_002117.6:c.750G>T MANE Select | NP_002108.4:p.Gln250His |