gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5891317 (EAS)
Genomes Max Group AF
0.5891317 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79113237C>T , CM000667.2:g.79113237C>T | GRCh38 |
| NC_000005.9:g.78409060C>T , CM000667.1:g.78409060C>T | GRCh37 |
| NC_000005.8:g.78444816C>T | NCBI36 |
| NG_029156.1:g.6457C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274353.10:c.33+1319C>T (BHMT) MANE Select | ENSP00000274353.5:n.33+1319C>T | |
| ENST00000274353.9:c.33+1319C>T (BHMT) | ENSP00000274353.5:n.33+1319C>T | |
| ENST00000520335.5:n.110+1319C>T (BHMT) | ||
| ENST00000520388.5:n.491+7104G>A (DMGDH) | ||
| ENST00000520703.1:n.110+1319C>T (BHMT) | ||
| ENST00000524080.1:c.33+1319C>T (BHMT) | ENSP00000428240.1:n.33+1319C>T | |
| NM_001713.2:c.33+1319C>T (BHMT) | NP_001704.2:n.33+1319C>T | |
| NM_001713.3:c.33+1319C>T (BHMT) MANE Select | NP_001704.2:n.33+1319C>T |