Linked Data
ClinVar Variation Id:
521157
dbSNP Id:
rs140583554
ExAC:
14:20920225 C / T
gnomAD v2:
14-20920225-C-T
gnomAD v3:
14-20452066-C-T
gnomAD v4:
14-20452066-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20452066C>T , CM000676.2:g.20452066C>T | GRCh38 |
| NC_000014.8:g.20920225C>T , CM000676.1:g.20920225C>T | GRCh37 |
| NC_000014.7:g.19990065C>T | NCBI36 |
| NG_008718.1:g.1936C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.9:c.319G>A MANE Select | ENSP00000206542.4:p.Val107Met | |
| ENST00000206542.8:c.319G>A | ENSP00000206542.4:p.Val107Met | |
| ENST00000553640.3:c.319G>A | ENSP00000451580.1:p.Val107Met | |
| ENST00000554699.1:n.429G>A | ||
| ENST00000555223.5:c.204G>A | ||
| ENST00000556252.1:n.742G>A | ||
| ENST00000556439.1:n.904G>A | ||
| NM_017807.3:c.319G>A | NP_060277.1:p.Val107Met | |
| XM_011536930.1:c.262G>A | XP_011535232.1:p.Val88Met | |
| XM_011536931.1:c.76G>A | XP_011535233.1:p.Val26Met | |
| XM_011536932.1:c.76G>A | XP_011535234.1:p.Val26Met | |
| NM_017807.4:c.319G>A MANE Select | NP_060277.1:p.Val107Met |