HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271342T>A , CM000668.2:g.31271342T>A | GRCh38 |
NC_000006.11:g.31239119T>A , CM000668.1:g.31239119T>A | GRCh37 |
NC_000006.10:g.31347098T>A | NCBI36 |
NG_029422.2:g.5790A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.350A>T MANE Select | ENSP00000365402.5:p.His117Leu | |
ENST00000376228.9:c.350A>T | ENSP00000365402.5:p.His117Leu | |
ENST00000376237.8:c.344-11A>T | ENSP00000365412.4:n.344-11A>T | |
ENST00000383329.7:c.350A>T | ENSP00000372819.3:p.His117Leu | |
ENST00000415537.1:c.348A>T | ||
ENST00000484378.1:n.619A>T | ||
ENST00000487245.5:n.709A>T | ||
ENST00000495835.1:n.539A>T | ||
NM_002117.5:c.350A>T | NP_002108.4:p.His117Leu | |
NM_002117.6:c.350A>T MANE Select | NP_002108.4:p.His117Leu |