HGVS | Genome Assembly |
---|---|
NC_000005.10:g.79126794G>A , CM000667.2:g.79126794G>A | GRCh38 |
NC_000005.9:g.78422617G>A , CM000667.1:g.78422617G>A | GRCh37 |
NC_000005.8:g.78458373G>A | NCBI36 |
NG_029156.1:g.20014G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000274353.10:c.808+566G>A (BHMT) MANE Select | ENSP00000274353.5:n.808+566G>A | |
ENST00000274353.9:c.808+566G>A (BHMT) | ENSP00000274353.5:n.808+566G>A | |
ENST00000518707.1:n.129-5442C>T (DMGDH) | ||
ENST00000520388.5:n.229-5442C>T (DMGDH) | ||
ENST00000521279.1:n.268+566G>A (BHMT) | ||
ENST00000524080.1:c.349+566G>A (BHMT) | ENSP00000428240.1:n.349+566G>A | |
NM_001713.2:c.808+566G>A (BHMT) | NP_001704.2:n.808+566G>A | |
NM_001713.3:c.808+566G>A (BHMT) MANE Select | NP_001704.2:n.808+566G>A |