Linked Data
ClinVar Variation Id:
139460
ClinVar RCV Id:
RCV001786334
dbSNP Id:
rs10835638
gnomAD v2:
11-30252352-G-T
gnomAD v3:
11-30230805-G-T
gnomAD v4:
11-30230805-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.30230805G>T , CM000673.2:g.30230805G>T | GRCh38 |
| NC_000011.9:g.30252352G>T , CM000673.1:g.30252352G>T | GRCh37 |
| NC_000011.8:g.30208928G>T | NCBI36 |
| NG_008144.1:g.4790G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011519964.1:c.-38+39G>T (FSHB) | XP_011518266.1:n.-38+39G>T | |
| XR_931152.1:n.463+86085C>A (ARL14EP-DT) | ||
| XR_931153.1:n.284+86085C>A (ARL14EP-DT) | ||
| XR_931152.2:n.463+86085C>A (ARL14EP-DT) |