Linked Data
dbSNP Id:
rs1030375572
gnomAD v2:
1-227058225-A-G
gnomAD v3:
1-226870524-A-G
gnomAD v4:
1-226870524-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226870524A>G , CM000663.2:g.226870524A>G | GRCh38 |
| NC_000001.10:g.227058225A>G , CM000663.1:g.227058225A>G | GRCh37 |
| NC_000001.9:g.225124848A>G | NCBI36 |
| NG_007381.1:g.4953A>G | |
| NG_007381.2:g.5341A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.-350+19A>G | ENSP00000355741.2:n.-350+19A>G | |
| ENST00000524196.6:c.-350+19A>G | ENSP00000429036.2:n.-350+19A>G | |
| ENST00000676884.1:c.-350+19A>G | ENSP00000503200.1:n.-350+19A>G | |
| ENST00000676888.1:c.-350+19A>G | ENSP00000504483.1:n.-350+19A>G | |
| ENST00000678835.1:c.-475A>G | ENSP00000504343.1:n.-475A>G | |
| ENST00000524196.5:c.-350+19A>G | ENSP00000429036.1:n.-350+19A>G |