Linked Data
dbSNP Id:
rs988748
gnomAD v2:
11-27724745-C-G
gnomAD v3:
11-27703198-C-G
gnomAD v4:
11-27703198-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.27703198C>G , CM000673.2:g.27703198C>G | GRCh38 |
| NC_000011.9:g.27724745C>G , CM000673.1:g.27724745C>G | GRCh37 |
| NC_000011.8:g.27681321C>G | NCBI36 |
| NG_011794.1:g.23861G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314915.6:c.3+18214G>C | ENSP00000320002.6:n.3+18214G>C | |
| ENST00000395978.7:c.-22+17231G>C | ENSP00000379302.3:n.-22+17231G>C | |
| ENST00000395981.7:c.-22+17148G>C | ENSP00000379305.3:n.-22+17148G>C | |
| ENST00000525950.5:c.-22+17446G>C | ENSP00000432035.1:n.-22+17446G>C | |
| ENST00000532997.5:c.-22+16313G>C | ENSP00000435805.1:n.-22+16313G>C | |
| NM_001143805.1:c.-22+17446G>C | NP_001137277.1:n.-22+17446G>C | |
| NM_001143806.1:c.-22+17231G>C | NP_001137278.1:n.-22+17231G>C | |
| NM_001143807.1:c.-22+16313G>C | NP_001137279.1:n.-22+16313G>C | |
| NM_170731.4:c.3+18214G>C | NP_733927.1:n.3+18214G>C | |
| NM_170732.4:c.-22+17148G>C | NP_733928.1:n.-22+17148G>C | |
| NM_001143807.2:c.-22+16313G>C | NP_001137279.1:n.-22+16313G>C | |
| NM_170731.5:c.3+18214G>C | NP_733927.1:n.3+18214G>C |