Linked Data
ClinVar Variation Id:
307492
ClinVar RCV Id:
RCV000400520
dbSNP Id:
rs886049038
gnomAD v3:
12-123233354-G-T
gnomAD v4:
12-123233354-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123233354G>T , CM000674.2:g.123233354G>T | GRCh38 |
| NC_000012.11:g.123717901G>T , CM000674.1:g.123717901G>T | GRCh37 |
| NC_000012.10:g.122283854G>T | NCBI36 |
| NG_027517.1:g.5058G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253233.5:c.-206G>T (MTRFR) | ENSP00000253233.1:n.-206G>T | |
| ENST00000545406.1:c.-158-2832C>A (MPHOSPH9) | ENSP00000446334.1:n.-158-2832C>A | |
| NM_152269.4:c.-206G>T (MTRFR) | NP_689482.1:n.-206G>T | |
| XM_011537738.1:c.-158-2832C>A (MPHOSPH9) | XP_011536040.1:n.-158-2832C>A | |
| XM_017018673.1:c.-158-2832C>A (MPHOSPH9) | XP_016874162.1:n.-158-2832C>A |