HGVS | Genome Assembly |
---|---|
NC_000005.10:g.79120494C>T , CM000667.2:g.79120494C>T | GRCh38 |
NC_000005.9:g.78416317C>T , CM000667.1:g.78416317C>T | GRCh37 |
NC_000005.8:g.78452073C>T | NCBI36 |
NG_029156.1:g.13714C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000274353.10:c.430C>T (BHMT) MANE Select | ENSP00000274353.5:p.Gln144Ter | |
ENST00000274353.9:c.430C>T (BHMT) | ENSP00000274353.5:p.Gln144Ter | |
ENST00000518707.1:n.279-41G>A (DMGDH) | ||
ENST00000520388.5:n.379-41G>A (DMGDH) | ||
ENST00000523508.1:n.143C>T (BHMT) | ||
ENST00000524080.1:c.166+4595C>T (BHMT) | ENSP00000428240.1:n.166+4595C>T | |
NM_001713.2:c.430C>T (BHMT) | NP_001704.2:p.Gln144Ter | |
NM_001713.3:c.430C>T (BHMT) MANE Select | NP_001704.2:p.Gln144Ter |