Linked Data
dbSNP Id:
rs2049046
gnomAD v2:
11-27723775-T-A
gnomAD v3:
11-27702228-T-A
gnomAD v4:
11-27702228-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.27702228T>A , CM000673.2:g.27702228T>A | GRCh38 |
| NC_000011.9:g.27723775T>A , CM000673.1:g.27723775T>A | GRCh37 |
| NC_000011.8:g.27680351T>A | NCBI36 |
| NG_011794.1:g.24831A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314915.6:c.3+19184A>T | ENSP00000320002.6:n.3+19184A>T | |
| ENST00000395978.7:c.-22+18201A>T | ENSP00000379302.3:n.-22+18201A>T | |
| ENST00000395981.7:c.-22+18118A>T | ENSP00000379305.3:n.-22+18118A>T | |
| ENST00000525950.5:c.-22+18416A>T | ENSP00000432035.1:n.-22+18416A>T | |
| ENST00000532997.5:c.-22+17283A>T | ENSP00000435805.1:n.-22+17283A>T | |
| NM_001143805.1:c.-22+18416A>T | NP_001137277.1:n.-22+18416A>T | |
| NM_001143806.1:c.-22+18201A>T | NP_001137278.1:n.-22+18201A>T | |
| NM_001143807.1:c.-22+17283A>T | NP_001137279.1:n.-22+17283A>T | |
| NM_170731.4:c.3+19184A>T | NP_733927.1:n.3+19184A>T | |
| NM_170732.4:c.-22+18118A>T | NP_733928.1:n.-22+18118A>T | |
| NM_001143807.2:c.-22+17283A>T | NP_001137279.1:n.-22+17283A>T | |
| NM_170731.5:c.3+19184A>T | NP_733927.1:n.3+19184A>T |