HGVS | Genome Assembly |
---|---|
NC_000005.10:g.79120411C= , CM000667.2:g.79120411C= | GRCh38 |
NC_000005.9:g.78416234C= , CM000667.1:g.78416234C= | GRCh37 |
NC_000005.8:g.78451990C= | NCBI36 |
NG_029156.1:g.13631C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000274353.10:c.347C= (BHMT) MANE Select | ENSP00000274353.5:p.Ala116= | |
ENST00000274353.9:c.347C= (BHMT) | ENSP00000274353.5:p.Ala116= | |
ENST00000518707.1:n.321G= (DMGDH) | ||
ENST00000520388.5:n.421G= (DMGDH) | ||
ENST00000523508.1:n.60C= (BHMT) | ||
ENST00000524080.1:c.166+4512C= (BHMT) | ENSP00000428240.1:n.166+4512C= | |
NM_001713.2:c.347C= (BHMT) | NP_001704.2:p.Ala116= | |
NM_001713.3:c.347C= (BHMT) MANE Select | NP_001704.2:p.Ala116= |