gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79113237C>A , CM000667.2:g.79113237C>A | GRCh38 |
| NC_000005.9:g.78409060C>A , CM000667.1:g.78409060C>A | GRCh37 |
| NC_000005.8:g.78444816C>A | NCBI36 |
| NG_029156.1:g.6457C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274353.10:c.33+1319C>A (BHMT) MANE Select | ENSP00000274353.5:n.33+1319C>A | |
| ENST00000274353.9:c.33+1319C>A (BHMT) | ENSP00000274353.5:n.33+1319C>A | |
| ENST00000520335.5:n.110+1319C>A (BHMT) | ||
| ENST00000520388.5:n.491+7104G>T (DMGDH) | ||
| ENST00000520703.1:n.110+1319C>A (BHMT) | ||
| ENST00000524080.1:c.33+1319C>A (BHMT) | ENSP00000428240.1:n.33+1319C>A | |
| NM_001713.2:c.33+1319C>A (BHMT) | NP_001704.2:n.33+1319C>A | |
| NM_001713.3:c.33+1319C>A (BHMT) MANE Select | NP_001704.2:n.33+1319C>A |