Linked Data
ClinVar Variation Id:
307493
ClinVar RCV Id:
RCV000301946
dbSNP Id:
rs886049039
gnomAD v3:
12-123233432-C-T
gnomAD v4:
12-123233432-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123233432C>T , CM000674.2:g.123233432C>T | GRCh38 |
| NC_000012.11:g.123717979C>T , CM000674.1:g.123717979C>T | GRCh37 |
| NC_000012.10:g.122283932C>T | NCBI36 |
| NG_027517.1:g.5136C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425637.3:c.-128C>T (MTRFR) | ENSP00000506680.1:n.-128C>T | |
| ENST00000253233.5:c.-128C>T (MTRFR) | ENSP00000253233.1:n.-128C>T | |
| ENST00000545406.1:c.-158-2910G>A (MPHOSPH9) | ENSP00000446334.1:n.-158-2910G>A | |
| NM_152269.4:c.-128C>T (MTRFR) | NP_689482.1:n.-128C>T | |
| XM_011537738.1:c.-158-2910G>A (MPHOSPH9) | XP_011536040.1:n.-158-2910G>A | |
| XM_017018673.1:c.-158-2910G>A (MPHOSPH9) | XP_016874162.1:n.-158-2910G>A |