Linked Data
dbSNP Id:
rs12678719
gnomAD v2:
8-106516054-C-G
gnomAD v3:
8-105503826-C-G
gnomAD v4:
8-105503826-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105503826C>G , CM000670.2:g.105503826C>G | GRCh38 |
| NC_000008.10:g.106516054C>G , CM000670.1:g.106516054C>G | GRCh37 |
| NC_000008.9:g.106585230C>G | NCBI36 |
| NG_011723.1:g.189908C>G | |
| NG_011723.2:g.189908C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407775.7:c.302-57537C>G MANE Select | ENSP00000384179.2:n.302-57537C>G | |
| ENST00000407775.6:c.302-57537C>G | ENSP00000384179.2:n.302-57537C>G | |
| ENST00000511341.6:n.1042-57537C>G | ||
| ENST00000520027.5:c.-95-57537C>G | ENSP00000428149.1:n.-95-57537C>G | |
| ENST00000520492.5:c.-95-57537C>G | ENSP00000430757.1:n.-95-57537C>G | |
| ENST00000524235.5:n.515-57537C>G | ||
| NM_012082.3:c.302-57537C>G | NP_036214.2:n.302-57537C>G | |
| XM_011516946.1:c.341-57537C>G | XP_011515248.1:n.341-57537C>G | |
| XM_011516947.1:c.272-57537C>G | XP_011515249.1:n.272-57537C>G | |
| XM_011516948.1:c.143-57537C>G | XP_011515250.1:n.143-57537C>G | |
| XM_011516949.1:c.341-57537C>G | XP_011515251.1:n.341-57537C>G | |
| NM_001362836.1:c.143-57537C>G | NP_001349765.1:n.143-57537C>G | |
| NM_001362837.1:c.-95-57537C>G | NP_001349766.1:n.-95-57537C>G | |
| XM_011516947.3:c.272-57537C>G | XP_011515249.1:n.272-57537C>G | |
| NM_012082.4:c.302-57537C>G MANE Select | NP_036214.2:n.302-57537C>G | |
| NM_001362836.2:c.143-57537C>G | NP_001349765.1:n.143-57537C>G | |
| NM_001362837.2:c.-95-57537C>G | NP_001349766.1:n.-95-57537C>G |