Linked Data
dbSNP Id:
rs13306221
gnomAD v2:
11-27722689-C-T
gnomAD v3:
11-27701142-C-T
gnomAD v4:
11-27701142-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.27701142C>T , CM000673.2:g.27701142C>T | GRCh38 |
| NC_000011.9:g.27722689C>T , CM000673.1:g.27722689C>T | GRCh37 |
| NC_000011.8:g.27679265C>T | NCBI36 |
| NG_011794.1:g.25917G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314915.6:c.3+20270G>A | ENSP00000320002.6:n.3+20270G>A | |
| ENST00000395978.7:c.-22+19287G>A | ENSP00000379302.3:n.-22+19287G>A | |
| ENST00000395980.6:c.-22+155G>A | ENSP00000379304.2:n.-22+155G>A | |
| ENST00000395981.7:c.-22+19204G>A | ENSP00000379305.3:n.-22+19204G>A | |
| ENST00000525950.5:c.-22+19502G>A | ENSP00000432035.1:n.-22+19502G>A | |
| ENST00000532997.5:c.-22+18369G>A | ENSP00000435805.1:n.-22+18369G>A | |
| ENST00000584049.5:n.337+155G>A | ||
| NM_001143805.1:c.-22+19502G>A | NP_001137277.1:n.-22+19502G>A | |
| NM_001143806.1:c.-22+19287G>A | NP_001137278.1:n.-22+19287G>A | |
| NM_001143807.1:c.-22+18369G>A | NP_001137279.1:n.-22+18369G>A | |
| NM_170731.4:c.3+20270G>A | NP_733927.1:n.3+20270G>A | |
| NM_170732.4:c.-22+19204G>A | NP_733928.1:n.-22+19204G>A | |
| NM_170733.3:c.-22+155G>A | NP_733929.1:n.-22+155G>A | |
| NM_001143807.2:c.-22+18369G>A | NP_001137279.1:n.-22+18369G>A | |
| NM_170731.5:c.3+20270G>A | NP_733927.1:n.3+20270G>A | |
| NM_170733.4:c.-22+155G>A | NP_733929.1:n.-22+155G>A |