Linked Data
ClinVar Variation Id:
359602
ClinVar RCV Id:
RCV000351221
dbSNP Id:
rs546259810
ExAC:
7:21600800 G / A
gnomAD v2:
7-21600800-G-A
gnomAD v3:
7-21561182-G-A
gnomAD v4:
7-21561182-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21561182G>A , CM000669.2:g.21561182G>A | GRCh38 |
| NC_000007.13:g.21600800G>A , CM000669.1:g.21600800G>A | GRCh37 |
| NC_000007.12:g.21567325G>A | NCBI36 |
| NG_012886.2:g.22968G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.982+12G>A MANE Select | ENSP00000475939.1:n.982+12G>A | |
| ENST00000328843.10:c.982+12G>A | ENSP00000330671.7:n.982+12G>A | |
| ENST00000409508.7:c.982+12G>A | ENSP00000475939.1:n.982+12G>A | |
| ENST00000483691.1:n.190G>A | ||
| ENST00000496218.1:n.80+12G>A | ||
| ENST00000620169.4:c.982+12G>A | ENSP00000481693.1:n.982+12G>A | |
| NM_001277115.1:c.982+12G>A | NP_001264044.1:n.982+12G>A | |
| XR_927090.1:n.564-942C>T | ||
| XR_001745114.1:n.2794-942C>T | ||
| NM_001277115.2:c.982+12G>A MANE Select | NP_001264044.1:n.982+12G>A |