Linked Data
ClinVar Variation Id:
259656
ClinVar RCV Id:
RCV000251261
dbSNP Id:
rs886038557
gnomAD v4:
11-72243769-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72243769G>T , CM000673.2:g.72243769G>T | GRCh38 |
| NC_000011.9:g.71954813G>T , CM000673.1:g.71954813G>T | GRCh37 |
| NC_000011.8:g.71632461G>T | NCBI36 |
| NG_008169.1:g.5408C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298231.5:c.217+19C>A MANE Select | ENSP00000298231.5:n.217+19C>A | |
| ENST00000544057.1:n.85+1811C>A | ||
| NM_005169.3:c.217+19C>A | NP_005160.2:n.217+19C>A | |
| NM_005169.4:c.217+19C>A MANE Select | NP_005160.2:n.217+19C>A |