Linked Data
dbSNP Id:
rs945610497
gnomAD v2:
5-78416502-C-T
gnomAD v3:
5-79120679-C-T
gnomAD v4:
5-79120679-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79120679C>T , CM000667.2:g.79120679C>T | GRCh38 |
| NC_000005.9:g.78416502C>T , CM000667.1:g.78416502C>T | GRCh37 |
| NC_000005.8:g.78452258C>T | NCBI36 |
| NG_029156.1:g.13899C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274353.10:c.477+138C>T (BHMT) MANE Select | ENSP00000274353.5:n.477+138C>T | |
| ENST00000274353.9:c.477+138C>T (BHMT) | ENSP00000274353.5:n.477+138C>T | |
| ENST00000518707.1:n.279-226G>A (DMGDH) | ||
| ENST00000520388.5:n.379-226G>A (DMGDH) | ||
| ENST00000523508.1:n.190+138C>T (BHMT) | ||
| ENST00000524080.1:c.166+4780C>T (BHMT) | ENSP00000428240.1:n.166+4780C>T | |
| NM_001713.2:c.477+138C>T (BHMT) | NP_001704.2:n.477+138C>T | |
| NM_001713.3:c.477+138C>T (BHMT) MANE Select | NP_001704.2:n.477+138C>T |