Linked Data
ClinVar Variation Id:
1407442
ClinVar RCV Id:
RCV001909266
dbSNP Id:
rs563992464
gnomAD v2:
14-64924960-G-A
gnomAD v3:
14-64458242-G-A
gnomAD v4:
14-64458242-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64458242G>A , CM000676.2:g.64458242G>A | GRCh38 |
| NC_000014.8:g.64924960G>A , CM000676.1:g.64924960G>A | GRCh37 |
| NC_000014.7:g.63994713G>A | NCBI36 |
| NG_012450.1:g.75202G>A | |
| NG_012450.2:g.75202G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557539.2:c.2504G>A (MTHFD1) | ENSP00000476468.2:p.Arg835Gln | |
| ENST00000697166.1:n.6234G>A (MTHFD1) | ||
| ENST00000697167.1:c.*1278G>A (MTHFD1) | ENSP00000513155.1:n.*1278G>A | |
| ENST00000697168.1:c.2594G>A (MTHFD1) | ENSP00000513156.1:p.Arg865Gln | |
| ENST00000697169.1:c.*748G>A (MTHFD1) | ENSP00000513157.1:n.*748G>A | |
| ENST00000697170.1:n.3911G>A (MTHFD1) | ||
| ENST00000697171.1:c.*37G>A (MTHFD1) | ENSP00000513158.1:n.*37G>A | |
| ENST00000697173.1:c.2504G>A (MTHFD1) | ENSP00000513159.1:p.Arg835Gln | |
| ENST00000697174.1:c.2498G>A (MTHFD1) | ENSP00000513160.1:p.Arg833Gln | |
| ENST00000697175.1:c.*1543G>A (MTHFD1) | ENSP00000513161.1:n.*1543G>A | |
| ENST00000697176.1:c.*37G>A (MTHFD1) | ENSP00000513162.1:n.*37G>A | |
| ENST00000697177.1:n.1202G>A (MTHFD1) | ||
| ENST00000545908.6:c.2719-1517G>A (MTHFD1) | ENSP00000438588.2:n.2719-1517G>A | |
| ENST00000554768.6:c.2504G>A (MTHFD1) | ENSP00000477501.2:p.Arg835Gln | |
| ENST00000650853.1:n.3863G>A (MTHFD1) | ||
| ENST00000651537.1:c.2747G>A (MTHFD1) | ENSP00000498511.1:p.Arg916Gln | |
| ENST00000651891.1:n.734G>A (MTHFD1) | ||
| ENST00000652179.1:c.2504G>A (MTHFD1) | ENSP00000498649.1:p.Arg835Gln | |
| ENST00000652337.1:c.2747G>A (MTHFD1) MANE Select | ENSP00000498336.1:p.Arg916Gln | |
| ENST00000652509.1:c.1872G>A (MTHFD1) | ||
| ENST00000216605.12:c.2747G>A (MTHFD1) | ENSP00000216605.8:p.Arg916Gln | |
| ENST00000545908.5:c.2887-1517G>A (MTHFD1) | ENSP00000438588.1:n.2887-1517G>A | |
| ENST00000554353.1:n.246G>A (MTHFD1) | ||
| ENST00000555220.5:c.174-8604C>T (ZBTB25) | ENSP00000450718.1:n.174-8604C>T | |
| ENST00000555424.1:c.257-8604C>T (ZBTB25) | ENSP00000451046.1:n.257-8604C>T | |
| ENST00000556284.1:n.412G>A (MTHFD1) | ||
| NM_001304508.1:c.174-8604C>T (ZBTB25) | NP_001291437.1:n.174-8604C>T | |
| NM_005956.3:c.2747G>A (MTHFD1) | NP_005947.3:p.Arg916Gln | |
| XM_006720250.2:c.1493-8604C>T (ZBTB25) | XP_006720313.1:n.1493-8604C>T | |
| NM_001364837.1:c.2719-1517G>A (MTHFD1) | NP_001351766.1:n.2719-1517G>A | |
| NM_005956.4:c.2747G>A (MTHFD1) MANE Select | NP_005947.3:p.Arg916Gln | |
| XM_006720250.4:c.1493-8604C>T (ZBTB25) | XP_006720313.1:n.1493-8604C>T |