HGVS | Genome Assembly |
---|---|
NC_000005.10:g.79114749A>G , CM000667.2:g.79114749A>G | GRCh38 |
NC_000005.9:g.78410572A>G , CM000667.1:g.78410572A>G | GRCh37 |
NC_000005.8:g.78446328A>G | NCBI36 |
NG_029156.1:g.7969A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000274353.10:c.34-1018A>G (BHMT) MANE Select | ENSP00000274353.5:n.34-1018A>G | |
ENST00000274353.9:c.34-1018A>G (BHMT) | ENSP00000274353.5:n.34-1018A>G | |
ENST00000520335.5:n.111-1018A>G (BHMT) | ||
ENST00000520388.5:n.491+5592T>C (DMGDH) | ||
ENST00000520703.1:n.111-1018A>G (BHMT) | ||
ENST00000524080.1:c.34-1018A>G (BHMT) | ENSP00000428240.1:n.34-1018A>G | |
NM_001713.2:c.34-1018A>G (BHMT) | NP_001704.2:n.34-1018A>G | |
NM_001713.3:c.34-1018A>G (BHMT) MANE Select | NP_001704.2:n.34-1018A>G |