HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271288C>T , CM000668.2:g.31271288C>T | GRCh38 |
NC_000006.11:g.31239065C>T , CM000668.1:g.31239065C>T | GRCh37 |
NC_000006.10:g.31347044C>T | NCBI36 |
NG_029422.2:g.5844G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376228.10:c.404G>A MANE Select | ENSP00000365402.5:p.Arg135His | |
ENST00000376228.9:c.404G>A | ENSP00000365402.5:p.Arg135His | |
ENST00000376237.8:c.387G>A | ENSP00000365412.4:p.Pro129= | |
ENST00000383329.7:c.404G>A | ENSP00000372819.3:p.Arg135His | |
ENST00000415537.1:c.402G>A | ||
ENST00000484378.1:n.673G>A | ||
ENST00000487245.5:n.763G>A | ||
ENST00000495835.1:n.593G>A | ||
NM_002117.5:c.404G>A | NP_002108.4:p.Arg135His | |
NM_002117.6:c.404G>A MANE Select | NP_002108.4:p.Arg135His |