Linked Data
ClinVar Variation Id:
2767338
ClinVar RCV Id:
RCV003573857
MyVariant Identifiers:
chr14:g.64921515C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64454797C>G , CM000676.2:g.64454797C>G | GRCh38 |
| NC_000014.8:g.64921515C>G , CM000676.1:g.64921515C>G | GRCh37 |
| NC_000014.7:g.63991268C>G | NCBI36 |
| NG_012450.1:g.71757C>G | |
| NG_012450.2:g.71757C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557539.2:c.2397C>G (MTHFD1) | ENSP00000476468.2:p.Val799= | |
| ENST00000697166.1:n.2789C>G (MTHFD1) | ||
| ENST00000697167.1:c.*1249+936C>G (MTHFD1) | ENSP00000513155.1:n.*1249+936C>G | |
| ENST00000697168.1:c.2565+936C>G (MTHFD1) | ENSP00000513156.1:n.2565+936C>G | |
| ENST00000697169.1:c.*641C>G (MTHFD1) | ENSP00000513157.1:n.*641C>G | |
| ENST00000697170.1:n.3804C>G (MTHFD1) | ||
| ENST00000697171.1:c.2651C>G (MTHFD1) | ENSP00000513158.1:p.Ser884Cys | |
| ENST00000697173.1:c.2397C>G (MTHFD1) | ENSP00000513159.1:p.Val799= | |
| ENST00000697174.1:c.2391C>G (MTHFD1) | ENSP00000513160.1:p.Val797= | |
| ENST00000697175.1:c.*1436C>G (MTHFD1) | ENSP00000513161.1:n.*1436C>G | |
| ENST00000697176.1:c.2219C>G (MTHFD1) | ENSP00000513162.1:p.Ser740Cys | |
| ENST00000697177.1:n.1095C>G (MTHFD1) | ||
| ENST00000545908.6:c.2640C>G (MTHFD1) | ENSP00000438588.2:p.Val880= | |
| ENST00000554768.6:c.2397C>G (MTHFD1) | ENSP00000477501.2:p.Val799= | |
| ENST00000557370.3:c.2640C>G (MTHFD1) | ENSP00000477199.2:p.Val880= | |
| ENST00000650853.1:n.3756C>G (MTHFD1) | ||
| ENST00000651537.1:c.2640C>G (MTHFD1) | ENSP00000498511.1:p.Val880= | |
| ENST00000651891.1:n.627C>G (MTHFD1) | ||
| ENST00000652179.1:c.2397C>G (MTHFD1) | ENSP00000498649.1:p.Val799= | |
| ENST00000652337.1:c.2640C>G (MTHFD1) MANE Select | ENSP00000498336.1:p.Val880= | |
| ENST00000652509.1:c.1765C>G (MTHFD1) | ||
| ENST00000216605.12:c.2640C>G (MTHFD1) | ENSP00000216605.8:p.Val880= | |
| ENST00000545908.5:c.2808C>G (MTHFD1) | ENSP00000438588.1:p.Val936= | |
| ENST00000555220.5:c.174-5159G>C (ZBTB25) | ENSP00000450718.1:n.174-5159G>C | |
| ENST00000555424.1:c.257-5159G>C (ZBTB25) | ENSP00000451046.1:n.257-5159G>C | |
| ENST00000556284.1:n.305C>G (MTHFD1) | ||
| ENST00000557370.2:c.195C>G (MTHFD1) | ENSP00000477199.1:p.Val65= | |
| NM_001304508.1:c.174-5159G>C (ZBTB25) | NP_001291437.1:n.174-5159G>C | |
| NM_005956.3:c.2640C>G (MTHFD1) | NP_005947.3:p.Val880= | |
| XM_006720250.2:c.1493-5159G>C (ZBTB25) | XP_006720313.1:n.1493-5159G>C | |
| NM_001364837.1:c.2640C>G (MTHFD1) | NP_001351766.1:p.Val880= | |
| NM_005956.4:c.2640C>G (MTHFD1) MANE Select | NP_005947.3:p.Val880= | |
| XM_006720250.4:c.1493-5159G>C (ZBTB25) | XP_006720313.1:n.1493-5159G>C |