Linked Data
dbSNP Id:
rs2146098
gnomAD v2:
1-186090370-A-G
gnomAD v3:
1-186121238-A-G
gnomAD v4:
1-186121238-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186121238A>G , CM000663.2:g.186121238A>G | GRCh38 |
| NC_000001.10:g.186090370A>G , CM000663.1:g.186090370A>G | GRCh37 |
| NC_000001.9:g.184356993A>G | NCBI36 |
| NG_011841.1:g.391688A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271588.9:c.12229+1093A>G MANE Select | ENSP00000271588.4:n.12229+1093A>G | |
| ENST00000271588.8:c.12229+1093A>G | ENSP00000271588.4:n.12229+1093A>G | |
| NM_031935.2:c.12229+1093A>G | NP_114141.2:n.12229+1093A>G | |
| XM_011510037.1:c.11944+1093A>G | XP_011508339.1:n.11944+1093A>G | |
| XM_011510038.1:c.12229+1093A>G | XP_011508340.1:n.12229+1093A>G | |
| XM_011510039.1:c.12229+1093A>G | XP_011508341.1:n.12229+1093A>G | |
| XM_011510038.3:c.12229+1093A>G | XP_011508340.1:n.12229+1093A>G | |
| XM_017002437.1:c.10252+1093A>G | XP_016857926.1:n.10252+1093A>G | |
| NM_031935.3:c.12229+1093A>G MANE Select | NP_114141.2:n.12229+1093A>G |