HGVS | Genome Assembly |
---|---|
NC_000005.10:g.79120693T= , CM000667.2:g.79120693T= | GRCh38 |
NC_000005.9:g.78416516T= , CM000667.1:g.78416516T= | GRCh37 |
NC_000005.8:g.78452272T= | NCBI36 |
NG_029156.1:g.13913T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000274353.10:c.477+152T= (BHMT) MANE Select | ENSP00000274353.5:n.477+152T= | |
ENST00000274353.9:c.477+152T= (BHMT) | ENSP00000274353.5:n.477+152T= | |
ENST00000518707.1:n.279-240A= (DMGDH) | ||
ENST00000520388.5:n.379-240A= (DMGDH) | ||
ENST00000523508.1:n.190+152T= (BHMT) | ||
ENST00000524080.1:c.166+4794T= (BHMT) | ENSP00000428240.1:n.166+4794T= | |
NM_001713.2:c.477+152T= (BHMT) | NP_001704.2:n.477+152T= | |
NM_001713.3:c.477+152T= (BHMT) MANE Select | NP_001704.2:n.477+152T= |