Linked Data
gnomAD v4:
5-79120610-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79120610G>T , CM000667.2:g.79120610G>T | GRCh38 |
| NC_000005.9:g.78416433G>T , CM000667.1:g.78416433G>T | GRCh37 |
| NC_000005.8:g.78452189G>T | NCBI36 |
| NG_029156.1:g.13830G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274353.10:c.477+69G>T (BHMT) MANE Select | ENSP00000274353.5:n.477+69G>T | |
| ENST00000274353.9:c.477+69G>T (BHMT) | ENSP00000274353.5:n.477+69G>T | |
| ENST00000518707.1:n.279-157C>A (DMGDH) | ||
| ENST00000520388.5:n.379-157C>A (DMGDH) | ||
| ENST00000523508.1:n.190+69G>T (BHMT) | ||
| ENST00000524080.1:c.166+4711G>T (BHMT) | ENSP00000428240.1:n.166+4711G>T | |
| NM_001713.2:c.477+69G>T (BHMT) | NP_001704.2:n.477+69G>T | |
| NM_001713.3:c.477+69G>T (BHMT) MANE Select | NP_001704.2:n.477+69G>T |