Linked Data
ClinVar Variation Id:
2038284
ClinVar RCV Id:
RCV002890631
dbSNP Id:
rs8923
ExAC:
15:80137560 T / C
gnomAD v2:
15-80137560-T-C
gnomAD v3:
15-79845218-T-C
gnomAD v4:
15-79845218-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.79845218T>C , CM000677.2:g.79845218T>C | GRCh38 |
| NC_000015.9:g.80137560T>C , CM000677.1:g.80137560T>C | GRCh37 |
| NC_000015.8:g.77924615T>C | NCBI36 |
| NG_029243.1:g.57068A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258874.4:c.604A>G (MTHFS) MANE Select | ENSP00000258874.4:p.Thr202Ala | |
| ENST00000258874.3:c.604A>G (MTHFS) | ENSP00000258874.3:p.Thr202Ala | |
| ENST00000479961.1:c.532A>G (ST20-MTHFS) | ENSP00000455643.1:p.Thr178Ala | |
| ENST00000559722.2:c.691A>G (MTHFS) | ENSP00000489076.1:p.Thr231Ala | |
| ENST00000560261.1:c.110A>G (MTHFS) | ||
| ENST00000615374.5:c.532A>G (ST20-MTHFS) | ENSP00000489525.1:p.Thr178Ala | |
| NM_001199758.1:c.433A>G (MTHFS) | NP_001186687.1:p.Thr145Ala | |
| NM_001199760.1:c.532A>G (ST20-MTHFS) | NP_001186689.1:p.Thr178Ala | |
| NM_006441.3:c.604A>G (MTHFS) | NP_006432.1:p.Thr202Ala | |
| NR_037654.1:n.694A>G (MTHFS) | ||
| NM_006441.4:c.604A>G (MTHFS) MANE Select | NP_006432.1:p.Thr202Ala | |
| NM_001199760.2:c.532A>G (ST20-MTHFS) | NP_001186689.1:p.Thr178Ala | |
| NR_037654.2:n.711A>G (MTHFS) |