Linked Data
dbSNP Id:
rs12593811
gnomAD v2:
15-101721892-T-C
gnomAD v3:
15-101181687-T-C
gnomAD v4:
15-101181687-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101181687T>C , CM000677.2:g.101181687T>C | GRCh38 |
| NC_000015.9:g.101721892T>C , CM000677.1:g.101721892T>C | GRCh37 |
| NC_000015.8:g.99539415T>C | NCBI36 |
| NG_031908.1:g.75246A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254190.4:c.817-2707A>G MANE Select | ENSP00000254190.3:n.817-2707A>G | |
| ENST00000543813.2:c.294-2707A>G | ENSP00000496160.1:n.294-2707A>G | |
| ENST00000254190.3:c.817-2707A>G | ENSP00000254190.3:n.817-2707A>G | |
| ENST00000543813.1:n.70-2707A>G | ||
| ENST00000560766.1:n.150-2707A>G | ||
| ENST00000561414.1:n.186-2707A>G | ||
| NM_014918.4:c.817-2707A>G | NP_055733.2:n.817-2707A>G | |
| XM_006720435.2:c.1-2707A>G | XP_006720498.1:n.1-2707A>G | |
| XM_011521364.1:c.901-2707A>G | XP_011519666.1:n.901-2707A>G | |
| XM_011521365.1:c.1-2707A>G | XP_011519667.1:n.1-2707A>G | |
| XM_006720435.3:c.1-2707A>G | XP_006720498.1:n.1-2707A>G | |
| XM_011521364.2:c.901-2707A>G | XP_011519666.1:n.901-2707A>G | |
| XM_017022011.1:c.1-2707A>G | XP_016877500.1:n.1-2707A>G | |
| XM_024449873.1:c.196-2707A>G | XP_024305641.1:n.196-2707A>G | |
| NM_014918.5:c.817-2707A>G MANE Select | NP_055733.2:n.817-2707A>G |