Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123233428A>G , CM000674.2:g.123233428A>G | GRCh38 |
| NC_000012.11:g.123717975A>G , CM000674.1:g.123717975A>G | GRCh37 |
| NC_000012.10:g.122283928A>G | NCBI36 |
| NG_027517.1:g.5132A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425637.3:c.-132A>G (MTRFR) | ENSP00000506680.1:n.-132A>G | |
| ENST00000253233.5:c.-132A>G (MTRFR) | ENSP00000253233.1:n.-132A>G | |
| ENST00000545406.1:c.-158-2906T>C (MPHOSPH9) | ENSP00000446334.1:n.-158-2906T>C | |
| NM_152269.4:c.-132A>G (MTRFR) | NP_689482.1:n.-132A>G | |
| XM_011537738.1:c.-158-2906T>C (MPHOSPH9) | XP_011536040.1:n.-158-2906T>C | |
| XM_017018673.1:c.-158-2906T>C (MPHOSPH9) | XP_016874162.1:n.-158-2906T>C |