Linked Data
dbSNP Id:
rs987186189
gnomAD v2:
5-78416453-T-G
gnomAD v3:
5-79120630-T-G
gnomAD v4:
5-79120630-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79120630T>G , CM000667.2:g.79120630T>G | GRCh38 |
| NC_000005.9:g.78416453T>G , CM000667.1:g.78416453T>G | GRCh37 |
| NC_000005.8:g.78452209T>G | NCBI36 |
| NG_029156.1:g.13850T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274353.10:c.477+89T>G (BHMT) MANE Select | ENSP00000274353.5:n.477+89T>G | |
| ENST00000274353.9:c.477+89T>G (BHMT) | ENSP00000274353.5:n.477+89T>G | |
| ENST00000518707.1:n.279-177A>C (DMGDH) | ||
| ENST00000520388.5:n.379-177A>C (DMGDH) | ||
| ENST00000523508.1:n.190+89T>G (BHMT) | ||
| ENST00000524080.1:c.166+4731T>G (BHMT) | ENSP00000428240.1:n.166+4731T>G | |
| NM_001713.2:c.477+89T>G (BHMT) | NP_001704.2:n.477+89T>G | |
| NM_001713.3:c.477+89T>G (BHMT) MANE Select | NP_001704.2:n.477+89T>G |