Linked Data
dbSNP Id:
rs3740540
gnomAD v2:
10-126294167-G-A
gnomAD v3:
10-124605598-G-A
gnomAD v4:
10-124605598-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.124605598G>A , CM000672.2:g.124605598G>A | GRCh38 |
| NC_000010.10:g.126294167G>A , CM000672.1:g.126294167G>A | GRCh37 |
| NC_000010.9:g.126284157G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368842.10:c.717-7666G>A MANE Select | ENSP00000357835.5:n.717-7666G>A | |
| ENST00000368839.1:c.625-7666G>A | ENSP00000357832.1:n.625-7666G>A | |
| ENST00000368842.9:c.717-7666G>A | ENSP00000357835.5:n.717-7666G>A | |
| ENST00000482963.1:n.166-7666G>A | ||
| ENST00000486535.1:n.316+83G>A | ||
| ENST00000493240.1:n.207-7666G>A | ||
| NM_001167880.1:c.625-7666G>A | NP_001161352.1:n.625-7666G>A | |
| NM_022126.3:c.717-7666G>A | NP_071409.3:n.717-7666G>A | |
| XM_005270026.2:c.832-7666G>A | XP_005270083.1:n.832-7666G>A | |
| XM_006717943.1:c.789-7666G>A | XP_006718006.1:n.789-7666G>A | |
| XM_011540056.1:c.*20-7666G>A | XP_011538358.1:n.*20-7666G>A | |
| XR_945797.1:n.836-7666G>A | ||
| NM_001318331.1:c.468-7666G>A | NP_001305260.1:n.468-7666G>A | |
| XM_005270026.4:c.832-7666G>A | XP_005270083.1:n.832-7666G>A | |
| NM_022126.4:c.717-7666G>A MANE Select | NP_071409.3:n.717-7666G>A | |
| NM_001167880.2:c.625-7666G>A | NP_001161352.1:n.625-7666G>A | |
| NM_001318331.2:c.468-7666G>A | NP_001305260.1:n.468-7666G>A |