gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002848 (NFE)
Genomes Max Group AF
0.00002848 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79126747A>C , CM000667.2:g.79126747A>C | GRCh38 |
| NC_000005.9:g.78422570A>C , CM000667.1:g.78422570A>C | GRCh37 |
| NC_000005.8:g.78458326A>C | NCBI36 |
| NG_029156.1:g.19967A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274353.10:c.808+519A>C (BHMT) MANE Select | ENSP00000274353.5:n.808+519A>C | |
| ENST00000274353.9:c.808+519A>C (BHMT) | ENSP00000274353.5:n.808+519A>C | |
| ENST00000518707.1:n.129-5395T>G (DMGDH) | ||
| ENST00000520388.5:n.229-5395T>G (DMGDH) | ||
| ENST00000521279.1:n.268+519A>C (BHMT) | ||
| ENST00000524080.1:c.349+519A>C (BHMT) | ENSP00000428240.1:n.349+519A>C | |
| NM_001713.2:c.808+519A>C (BHMT) | NP_001704.2:n.808+519A>C | |
| NM_001713.3:c.808+519A>C (BHMT) MANE Select | NP_001704.2:n.808+519A>C |