HGVS | Genome Assembly |
---|---|
NC_000005.10:g.79120597C>A , CM000667.2:g.79120597C>A | GRCh38 |
NC_000005.9:g.78416420C>A , CM000667.1:g.78416420C>A | GRCh37 |
NC_000005.8:g.78452176C>A | NCBI36 |
NG_029156.1:g.13817C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000274353.10:c.477+56C>A (BHMT) MANE Select | ENSP00000274353.5:n.477+56C>A | |
ENST00000274353.9:c.477+56C>A (BHMT) | ENSP00000274353.5:n.477+56C>A | |
ENST00000518707.1:n.279-144G>T (DMGDH) | ||
ENST00000520388.5:n.379-144G>T (DMGDH) | ||
ENST00000523508.1:n.190+56C>A (BHMT) | ||
ENST00000524080.1:c.166+4698C>A (BHMT) | ENSP00000428240.1:n.166+4698C>A | |
NM_001713.2:c.477+56C>A (BHMT) | NP_001704.2:n.477+56C>A | |
NM_001713.3:c.477+56C>A (BHMT) MANE Select | NP_001704.2:n.477+56C>A |