Linked Data
dbSNP Id:
rs6875201
gnomAD v2:
5-78410564-A-G
gnomAD v3:
5-79114741-A-G
gnomAD v4:
5-79114741-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79114741A>G , CM000667.2:g.79114741A>G | GRCh38 |
| NC_000005.9:g.78410564A>G , CM000667.1:g.78410564A>G | GRCh37 |
| NC_000005.8:g.78446320A>G | NCBI36 |
| NG_029156.1:g.7961A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274353.10:c.34-1026A>G (BHMT) MANE Select | ENSP00000274353.5:n.34-1026A>G | |
| ENST00000274353.9:c.34-1026A>G (BHMT) | ENSP00000274353.5:n.34-1026A>G | |
| ENST00000520335.5:n.111-1026A>G (BHMT) | ||
| ENST00000520388.5:n.491+5600T>C (DMGDH) | ||
| ENST00000520703.1:n.111-1026A>G (BHMT) | ||
| ENST00000524080.1:c.34-1026A>G (BHMT) | ENSP00000428240.1:n.34-1026A>G | |
| NM_001713.2:c.34-1026A>G (BHMT) | NP_001704.2:n.34-1026A>G | |
| NM_001713.3:c.34-1026A>G (BHMT) MANE Select | NP_001704.2:n.34-1026A>G |