Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79120535T>G , CM000667.2:g.79120535T>G | GRCh38 |
| NC_000005.9:g.78416358T>G , CM000667.1:g.78416358T>G | GRCh37 |
| NC_000005.8:g.78452114T>G | NCBI36 |
| NG_029156.1:g.13755T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274353.10:c.471T>G (BHMT) MANE Select | ENSP00000274353.5:p.Ile157Met | |
| ENST00000274353.9:c.471T>G (BHMT) | ENSP00000274353.5:p.Ile157Met | |
| ENST00000518707.1:n.279-82A>C (DMGDH) | ||
| ENST00000520388.5:n.379-82A>C (DMGDH) | ||
| ENST00000523508.1:n.184T>G (BHMT) | ||
| ENST00000524080.1:c.166+4636T>G (BHMT) | ENSP00000428240.1:n.166+4636T>G | |
| NM_001713.2:c.471T>G (BHMT) | NP_001704.2:p.Ile157Met | |
| NM_001713.3:c.471T>G (BHMT) MANE Select | NP_001704.2:p.Ile157Met |