Linked Data
ClinVar Variation Id:
755383
ClinVar RCV Id:
RCV000932803
dbSNP Id:
rs1034316320
gnomAD v2:
14-64920477-A-T
gnomAD v3:
14-64453759-A-T
gnomAD v4:
14-64453759-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64453759A>T , CM000676.2:g.64453759A>T | GRCh38 |
| NC_000014.8:g.64920477A>T , CM000676.1:g.64920477A>T | GRCh37 |
| NC_000014.7:g.63990230A>T | NCBI36 |
| NG_012450.1:g.70719A>T | |
| NG_012450.2:g.70719A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557539.2:c.2220A>T (MTHFD1) | ENSP00000476468.2:p.Pro740= | |
| ENST00000697166.1:n.2612A>T (MTHFD1) | ||
| ENST00000697167.1:c.*1147A>T (MTHFD1) | ENSP00000513155.1:n.*1147A>T | |
| ENST00000697168.1:c.2463A>T (MTHFD1) | ENSP00000513156.1:p.Pro821= | |
| ENST00000697169.1:c.*464A>T (MTHFD1) | ENSP00000513157.1:n.*464A>T | |
| ENST00000697170.1:n.3627A>T (MTHFD1) | ||
| ENST00000697171.1:c.2463A>T (MTHFD1) | ENSP00000513158.1:p.Pro821= | |
| ENST00000697173.1:c.2220A>T (MTHFD1) | ENSP00000513159.1:p.Pro740= | |
| ENST00000697174.1:c.2214A>T (MTHFD1) | ENSP00000513160.1:p.Pro738= | |
| ENST00000697175.1:c.*1259A>T (MTHFD1) | ENSP00000513161.1:n.*1259A>T | |
| ENST00000697176.1:c.2042A>T (MTHFD1) | ENSP00000513162.1:p.Gln681Leu | |
| ENST00000697177.1:n.918A>T (MTHFD1) | ||
| ENST00000545908.6:c.2463A>T (MTHFD1) | ENSP00000438588.2:p.Pro821= | |
| ENST00000554768.6:c.2220A>T (MTHFD1) | ENSP00000477501.2:p.Pro740= | |
| ENST00000557370.3:c.2463A>T (MTHFD1) | ENSP00000477199.2:p.Pro821= | |
| ENST00000650853.1:n.3579A>T (MTHFD1) | ||
| ENST00000651537.1:c.2463A>T (MTHFD1) | ENSP00000498511.1:p.Pro821= | |
| ENST00000651891.1:n.450A>T (MTHFD1) | ||
| ENST00000652179.1:c.2220A>T (MTHFD1) | ENSP00000498649.1:p.Pro740= | |
| ENST00000652337.1:c.2463A>T (MTHFD1) MANE Select | ENSP00000498336.1:p.Pro821= | |
| ENST00000652509.1:c.1691-964A>T (MTHFD1) | ||
| ENST00000216605.12:c.2463A>T (MTHFD1) | ENSP00000216605.8:p.Pro821= | |
| ENST00000545908.5:c.2631A>T (MTHFD1) | ENSP00000438588.1:p.Pro877= | |
| ENST00000553405.1:n.785A>T (MTHFD1) | ||
| ENST00000555220.5:c.174-4121T>A (ZBTB25) | ENSP00000450718.1:n.174-4121T>A | |
| ENST00000555424.1:c.257-4121T>A (ZBTB25) | ENSP00000451046.1:n.257-4121T>A | |
| ENST00000556284.1:n.128A>T (MTHFD1) | ||
| ENST00000557370.2:c.18A>T (MTHFD1) | ENSP00000477199.1:p.Pro6= | |
| NM_001304508.1:c.174-4121T>A (ZBTB25) | NP_001291437.1:n.174-4121T>A | |
| NM_005956.3:c.2463A>T (MTHFD1) | NP_005947.3:p.Pro821= | |
| XM_006720250.2:c.1493-4121T>A (ZBTB25) | XP_006720313.1:n.1493-4121T>A | |
| NM_001364837.1:c.2463A>T (MTHFD1) | NP_001351766.1:p.Pro821= | |
| NM_005956.4:c.2463A>T (MTHFD1) MANE Select | NP_005947.3:p.Pro821= | |
| XM_006720250.4:c.1493-4121T>A (ZBTB25) | XP_006720313.1:n.1493-4121T>A |