Linked Data
dbSNP Id:
rs3733890
ExAC:
5:78421959 G / A
gnomAD v2:
5-78421959-G-A
gnomAD v3:
5-79126136-G-A
gnomAD v4:
5-79126136-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79126136G>A , CM000667.2:g.79126136G>A | GRCh38 |
| NC_000005.9:g.78421959G>A , CM000667.1:g.78421959G>A | GRCh37 |
| NC_000005.8:g.78457715G>A | NCBI36 |
| NG_029156.1:g.19356G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274353.10:c.716G>A (BHMT) MANE Select | ENSP00000274353.5:p.Arg239Gln | |
| ENST00000274353.9:c.716G>A (BHMT) | ENSP00000274353.5:p.Arg239Gln | |
| ENST00000518707.1:n.129-4784C>T (DMGDH) | ||
| ENST00000520388.5:n.229-4784C>T (DMGDH) | ||
| ENST00000521279.1:n.176G>A (BHMT) | ||
| ENST00000523508.1:n.429G>A (BHMT) | ||
| ENST00000524080.1:c.257G>A (BHMT) | ENSP00000428240.1:p.Arg86Gln | |
| NM_001713.2:c.716G>A (BHMT) | NP_001704.2:p.Arg239Gln | |
| NM_001713.3:c.716G>A (BHMT) MANE Select | NP_001704.2:p.Arg239Gln |