Linked Data
ClinVar Variation Id:
299550
ClinVar RCV Id:
RCV000263855
dbSNP Id:
rs370711661
ExAC:
10:17171814 C / T
gnomAD v2:
10-17171814-C-T
gnomAD v3:
10-17129815-C-T
gnomAD v4:
10-17129815-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.17129815C>T , CM000672.2:g.17129815C>T | GRCh38 |
| NC_000010.10:g.17171814C>T , CM000672.1:g.17171814C>T | GRCh37 |
| NC_000010.9:g.17211820C>T | NCBI36 |
| NG_008967.1:g.5003G>A , LRG_540:g.5003G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.8:c.-50G>A | ENSP00000367064.4:n.-50G>A | |
| NM_001081.3:c.-50G>A , LRG_540t1:c.-50G>A | NP_001072.2:n.-50G>A | |
| XM_011519708.1:c.-50G>A | XP_011518010.1:n.-50G>A | |
| XM_011519708.2:c.-50G>A | XP_011518010.1:n.-50G>A |