Linked Data
ClinVar Variation Id:
39582
dbSNP Id:
rs397514539
ExAC:
12:123741471 C / T
gnomAD v2:
12-123741471-C-T
gnomAD v3:
12-123256924-C-T
gnomAD v4:
12-123256924-C-T
COSMIC:
COSM2225747
PubMed:
PMID:23188110
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123256924C>T , CM000674.2:g.123256924C>T | GRCh38 |
| NC_000012.11:g.123741471C>T , CM000674.1:g.123741471C>T | GRCh37 |
| NC_000012.10:g.122307424C>T | NCBI36 |
| NG_027517.1:g.28628C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253233.6:c.394C>T (MTRFR) MANE Select | ENSP00000253233.1:p.Arg132Ter | |
| ENST00000366329.7:c.394C>T (MTRFR) | ENSP00000390647.1:p.Arg132Ter | |
| ENST00000425637.3:c.*1111C>T (MTRFR) | ENSP00000506680.1:n.*1111C>T | |
| ENST00000536130.2:c.394C>T (MTRFR) | ENSP00000443072.2:p.Arg132Ter | |
| ENST00000538888.6:c.*277C>T (MTRFR) | ENSP00000505059.1:n.*277C>T | |
| ENST00000541002.7:n.809+2119G>A | ||
| ENST00000543139.2:c.394C>T (MTRFR) | ENSP00000444843.2:p.Arg132Ter | |
| ENST00000543217.6:n.280+2119G>A | ||
| ENST00000652466.1:c.*955+3350G>A (CDK2AP1) | ENSP00000498286.1:n.*955+3350G>A | |
| ENST00000679849.1:c.394C>T (MTRFR) | ENSP00000505808.1:p.Arg132Ter | |
| ENST00000680325.1:c.*782C>T (MTRFR) | ENSP00000505277.1:n.*782C>T | |
| ENST00000253233.5:c.394C>T (MTRFR) | ENSP00000253233.1:p.Arg132Ter | |
| ENST00000366329.6:c.394C>T (MTRFR) | ENSP00000390647.1:p.Arg132Ter | |
| ENST00000425637.2:n.1594C>T (MTRFR) | ||
| ENST00000429587.2:c.394C>T (MTRFR) | ENSP00000391513.2:p.Arg132Ter | |
| ENST00000543139.1:c.394C>T (MTRFR) | ENSP00000444843.1:p.Arg132Ter | |
| NM_001143905.2:c.394C>T (MTRFR) | NP_001137377.1:p.Arg132Ter | |
| NM_001194995.1:c.394C>T (MTRFR) | NP_001181924.1:p.Arg132Ter | |
| NM_152269.4:c.394C>T (MTRFR) | NP_689482.1:p.Arg132Ter | |
| XM_005253630.3:c.394C>T (MTRFR) | XP_005253687.1:p.Arg132Ter | |
| XM_011538980.1:c.394C>T (MTRFR) | XP_011537282.1:p.Arg132Ter | |
| XM_011538981.1:c.394C>T (MTRFR) | XP_011537283.1:p.Arg132Ter | |
| XM_011538982.1:c.394C>T (MTRFR) | XP_011537284.1:p.Arg132Ter | |
| XR_945472.1:n.186+2119G>A | ||
| XM_005253630.4:c.394C>T (MTRFR) | XP_005253687.1:p.Arg132Ter | |
| XM_011538980.3:c.394C>T (MTRFR) | XP_011537282.1:p.Arg132Ter | |
| XM_024449273.1:c.394C>T (MTRFR) | XP_024305041.1:p.Arg132Ter | |
| NM_152269.5:c.394C>T (MTRFR) MANE Select | NP_689482.1:p.Arg132Ter |