Linked Data
ClinVar Variation Id:
434905
dbSNP Id:
rs560050475
ExAC:
8:38097869 C / T
gnomAD v2:
8-38097869-C-T
gnomAD v3:
8-38240351-C-T
gnomAD v4:
8-38240351-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38240351C>T , CM000670.2:g.38240351C>T | GRCh38 |
| NC_000008.10:g.38097869C>T , CM000670.1:g.38097869C>T | GRCh37 |
| NC_000008.9:g.38217026C>T | NCBI36 |
| NG_033875.1:g.13861C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397166.7:c.699C>T MANE Select | ENSP00000380352.2:p.Ser233= | |
| ENST00000397166.6:c.699C>T | ENSP00000380352.2:p.Ser233= | |
| ENST00000520272.6:c.699C>T | ENSP00000429932.2:p.Ser233= | |
| ENST00000526237.5:c.*256C>T | ENSP00000436994.1:n.*256C>T | |
| ENST00000527415.5:c.*59C>T | ENSP00000432024.1:n.*59C>T | |
| ENST00000532106.1:c.77C>T | ||
| ENST00000532222.5:c.623-1899C>T | ENSP00000433578.1:n.623-1899C>T | |
| NM_001164232.1:c.699C>T | NP_001157704.1:p.Ser233= | |
| NM_015214.2:c.699C>T | NP_056029.2:p.Ser233= | |
| XM_005273454.1:c.699C>T | XP_005273511.1:p.Ser233= | |
| XM_005273455.2:c.699C>T | XP_005273512.1:p.Ser233= | |
| XM_005273456.2:c.623-1899C>T | XP_005273513.1:n.623-1899C>T | |
| XM_011544455.1:c.699C>T | XP_011542757.1:p.Ser233= | |
| XM_011544456.1:c.699C>T | XP_011542758.1:p.Ser233= | |
| XR_247123.1:n.1224C>T | ||
| XR_949383.1:n.1224C>T | ||
| XR_949384.1:n.1224C>T | ||
| XR_949385.1:n.1224C>T | ||
| XR_949386.1:n.1224C>T | ||
| XR_949387.1:n.1224C>T | ||
| NM_001362911.1:c.699C>T | NP_001349840.1:p.Ser233= | |
| NM_001362912.1:c.699C>T | NP_001349841.1:p.Ser233= | |
| NM_001362913.1:c.623-1899C>T | NP_001349842.1:n.623-1899C>T | |
| NM_001362914.1:c.699C>T | NP_001349843.1:p.Ser233= | |
| NR_156416.1:n.1076C>T | ||
| NR_156417.1:n.1076C>T | ||
| XM_011544456.2:c.699C>T | XP_011542758.1:p.Ser233= | |
| XM_017013255.2:c.-363-1899C>T | XP_016868744.1:n.-363-1899C>T | |
| XR_001745504.2:n.982C>T | ||
| XR_001745506.2:n.982C>T | ||
| NM_001362911.2:c.699C>T | NP_001349840.1:p.Ser233= | |
| NM_001362912.2:c.699C>T | NP_001349841.1:p.Ser233= | |
| NM_015214.3:c.699C>T MANE Select | NP_056029.2:p.Ser233= | |
| NR_156417.2:n.982C>T | ||
| NM_001164232.2:c.699C>T | NP_001157704.1:p.Ser233= | |
| NM_001362913.2:c.623-1899C>T | NP_001349842.1:n.623-1899C>T | |
| NM_001362914.2:c.699C>T | NP_001349843.1:p.Ser233= | |
| NR_156416.2:n.982C>T |