Linked Data
ClinVar Variation Id:
214193
ClinVar RCV Id:
RCV000197129
dbSNP Id:
rs374311195
ExAC:
12:123738465 G / T
gnomAD v2:
12-123738465-G-T
gnomAD v4:
12-123253918-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123253918G>T , CM000674.2:g.123253918G>T | GRCh38 |
| NC_000012.11:g.123738465G>T , CM000674.1:g.123738465G>T | GRCh37 |
| NC_000012.10:g.122304418G>T | NCBI36 |
| NG_027517.1:g.25622G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253233.6:c.244G>T (MTRFR) MANE Select | ENSP00000253233.1:p.Val82Leu | |
| ENST00000366329.7:c.244G>T (MTRFR) | ENSP00000390647.1:p.Val82Leu | |
| ENST00000425637.3:c.244G>T (MTRFR) | ENSP00000506680.1:p.Val82Leu | |
| ENST00000536130.2:c.244G>T (MTRFR) | ENSP00000443072.2:p.Val82Leu | |
| ENST00000538888.6:c.244G>T (MTRFR) | ENSP00000505059.1:p.Val82Leu | |
| ENST00000541002.7:n.810-1376C>A | ||
| ENST00000543139.2:c.244G>T (MTRFR) | ENSP00000444843.2:p.Val82Leu | |
| ENST00000543217.6:n.281-1376C>A | ||
| ENST00000546132.2:c.244G>T (MTRFR) | ENSP00000441796.2:p.Val82Leu | |
| ENST00000652466.1:c.*956-1376C>A (CDK2AP1) | ENSP00000498286.1:n.*956-1376C>A | |
| ENST00000679849.1:c.244G>T (MTRFR) | ENSP00000505808.1:p.Val82Leu | |
| ENST00000680325.1:c.244G>T (MTRFR) | ENSP00000505277.1:p.Val82Leu | |
| ENST00000253233.5:c.244G>T (MTRFR) | ENSP00000253233.1:p.Val82Leu | |
| ENST00000366329.6:c.244G>T (MTRFR) | ENSP00000390647.1:p.Val82Leu | |
| ENST00000425637.2:n.367G>T (MTRFR) | ||
| ENST00000429587.2:c.244G>T (MTRFR) | ENSP00000391513.2:p.Val82Leu | |
| ENST00000538888.5:n.367G>T (MTRFR) | ||
| ENST00000543139.1:c.244G>T (MTRFR) | ENSP00000444843.1:p.Val82Leu | |
| ENST00000546132.1:c.244G>T (MTRFR) | ENSP00000441796.1:p.Val82Leu | |
| NM_001143905.2:c.244G>T (MTRFR) | NP_001137377.1:p.Val82Leu | |
| NM_001194995.1:c.244G>T (MTRFR) | NP_001181924.1:p.Val82Leu | |
| NM_152269.4:c.244G>T (MTRFR) | NP_689482.1:p.Val82Leu | |
| XM_005253630.3:c.244G>T (MTRFR) | XP_005253687.1:p.Val82Leu | |
| XM_011538980.1:c.244G>T (MTRFR) | XP_011537282.1:p.Val82Leu | |
| XM_011538981.1:c.244G>T (MTRFR) | XP_011537283.1:p.Val82Leu | |
| XM_011538982.1:c.244G>T (MTRFR) | XP_011537284.1:p.Val82Leu | |
| XR_945472.1:n.187-1376C>A | ||
| XM_005253630.4:c.244G>T (MTRFR) | XP_005253687.1:p.Val82Leu | |
| XM_011538980.3:c.244G>T (MTRFR) | XP_011537282.1:p.Val82Leu | |
| XM_024449273.1:c.244G>T (MTRFR) | XP_024305041.1:p.Val82Leu | |
| NM_152269.5:c.244G>T (MTRFR) MANE Select | NP_689482.1:p.Val82Leu |