Linked Data
dbSNP Id:
rs531631608
gnomAD v2:
5-78422590-C-T
gnomAD v3:
5-79126767-C-T
gnomAD v4:
5-79126767-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79126767C>T , CM000667.2:g.79126767C>T | GRCh38 |
| NC_000005.9:g.78422590C>T , CM000667.1:g.78422590C>T | GRCh37 |
| NC_000005.8:g.78458346C>T | NCBI36 |
| NG_029156.1:g.19987C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274353.10:c.808+539C>T (BHMT) MANE Select | ENSP00000274353.5:n.808+539C>T | |
| ENST00000274353.9:c.808+539C>T (BHMT) | ENSP00000274353.5:n.808+539C>T | |
| ENST00000518707.1:n.129-5415G>A (DMGDH) | ||
| ENST00000520388.5:n.229-5415G>A (DMGDH) | ||
| ENST00000521279.1:n.268+539C>T (BHMT) | ||
| ENST00000524080.1:c.349+539C>T (BHMT) | ENSP00000428240.1:n.349+539C>T | |
| NM_001713.2:c.808+539C>T (BHMT) | NP_001704.2:n.808+539C>T | |
| NM_001713.3:c.808+539C>T (BHMT) MANE Select | NP_001704.2:n.808+539C>T |