Linked Data
ClinVar Variation Id:
101083
ClinVar RCV Id:
RCV000087336
dbSNP Id:
rs886037659
PubMed:
PMID:24482476
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38245955C>G , CM000670.2:g.38245955C>G | GRCh38 |
| NC_000008.10:g.38103473C>G , CM000670.1:g.38103473C>G | GRCh37 |
| NC_000008.9:g.38222630C>G | NCBI36 |
| NG_033875.1:g.19465C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397166.7:c.1057+5C>G MANE Select | ENSP00000380352.2:n.1057+5C>G | |
| ENST00000397166.6:c.1057+5C>G | ENSP00000380352.2:n.1057+5C>G | |
| ENST00000520272.6:c.1057+5C>G | ENSP00000429932.2:n.1057+5C>G | |
| ENST00000527415.5:c.*417+5C>G | ENSP00000432024.1:n.*417+5C>G | |
| ENST00000528888.5:n.630+5C>G | ||
| ENST00000531344.1:n.372C>G | ||
| ENST00000532106.1:c.435+5C>G | ||
| NM_001164232.1:c.1057+5C>G | NP_001157704.1:n.1057+5C>G | |
| NM_015214.2:c.1057+5C>G | NP_056029.2:n.1057+5C>G | |
| XM_005273454.1:c.1057+5C>G | XP_005273511.1:n.1057+5C>G | |
| XM_005273455.2:c.1057+5C>G | XP_005273512.1:n.1057+5C>G | |
| XM_005273456.2:c.967+5C>G | XP_005273513.1:n.967+5C>G | |
| XM_005273457.2:c.-19+5C>G | XP_005273514.1:n.-19+5C>G | |
| XM_011544455.1:c.1057+5C>G | XP_011542757.1:n.1057+5C>G | |
| XM_011544456.1:c.1057+5C>G | XP_011542758.1:n.1057+5C>G | |
| XR_247123.1:n.1582+5C>G | ||
| XR_949383.1:n.1582+5C>G | ||
| XR_949384.1:n.1582+5C>G | ||
| XR_949385.1:n.1582+5C>G | ||
| XR_949386.1:n.1582+5C>G | ||
| XR_949387.1:n.1582+5C>G | ||
| NM_001362911.1:c.1057+5C>G | NP_001349840.1:n.1057+5C>G | |
| NM_001362912.1:c.1057+5C>G | NP_001349841.1:n.1057+5C>G | |
| NM_001362913.1:c.967+5C>G | NP_001349842.1:n.967+5C>G | |
| NM_001362914.1:c.1057+5C>G | NP_001349843.1:n.1057+5C>G | |
| NR_156416.1:n.1434+5C>G | ||
| NR_156417.1:n.1434+5C>G | ||
| XM_011544456.2:c.1057+5C>G | XP_011542758.1:n.1057+5C>G | |
| XM_017013255.2:c.-19+5C>G | XP_016868744.1:n.-19+5C>G | |
| XR_001745504.2:n.1340+5C>G | ||
| XR_001745506.2:n.1340+5C>G | ||
| NM_001362911.2:c.1057+5C>G | NP_001349840.1:n.1057+5C>G | |
| NM_001362912.2:c.1057+5C>G | NP_001349841.1:n.1057+5C>G | |
| NM_015214.3:c.1057+5C>G MANE Select | NP_056029.2:n.1057+5C>G | |
| NR_156417.2:n.1340+5C>G | ||
| NM_001164232.2:c.1057+5C>G | NP_001157704.1:n.1057+5C>G | |
| NM_001362913.2:c.967+5C>G | NP_001349842.1:n.967+5C>G | |
| NM_001362914.2:c.1057+5C>G | NP_001349843.1:n.1057+5C>G | |
| NR_156416.2:n.1340+5C>G |