Linked Data
dbSNP Id:
rs1036554130
gnomAD v2:
7-107555737-A-G
gnomAD v3:
7-107915292-A-G
gnomAD v4:
7-107915292-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107915292A>G , CM000669.2:g.107915292A>G | GRCh38 |
| NC_000007.13:g.107555737A>G , CM000669.1:g.107555737A>G | GRCh37 |
| NC_000007.12:g.107342973A>G | NCBI36 |
| NG_008045.1:g.29152A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205402.10:c.685-214A>G MANE Select | ENSP00000205402.3:n.685-214A>G | |
| ENST00000205402.9:c.685-214A>G | ENSP00000205402.3:n.685-214A>G | |
| ENST00000415325.5:c.*359-214A>G | ENSP00000402593.1:n.*359-214A>G | |
| ENST00000417551.5:c.685-214A>G | ENSP00000390667.1:n.685-214A>G | |
| ENST00000437604.6:c.541-214A>G | ENSP00000387542.2:n.541-214A>G | |
| ENST00000440410.5:c.616-214A>G | ENSP00000417016.1:n.616-214A>G | |
| ENST00000451081.5:c.*428-214A>G | ENSP00000388077.1:n.*428-214A>G | |
| NM_000108.4:c.685-214A>G | NP_000099.2:n.685-214A>G | |
| NM_001289750.1:c.388-214A>G | NP_001276679.1:n.388-214A>G | |
| NM_001289751.1:c.616-214A>G | NP_001276680.1:n.616-214A>G | |
| NM_001289752.1:c.541-214A>G | NP_001276681.1:n.541-214A>G | |
| NM_000108.5:c.685-214A>G MANE Select | NP_000099.2:n.685-214A>G |