Linked Data
ClinVar Variation Id:
1301990
ClinVar RCV Id:
RCV001733855
dbSNP Id:
rs1570615384
COSMIC:
COSM4031015
MutSpliceDB:
CA339172554
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26773899G>C , CM000663.2:g.26773899G>C | GRCh38 |
| NC_000001.10:g.27100390G>C , CM000663.1:g.27100390G>C | GRCh37 |
| NC_000001.9:g.26972977G>C | NCBI36 |
| NG_029965.1:g.82869G>C , LRG_875:g.82869G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.4101+1G>C MANE Select | ENSP00000320485.7:n.4101+1G>C | |
| ENST00000374152.7:c.2952+1G>C | ENSP00000363267.2:n.2952+1G>C | |
| ENST00000430799.7:c.2949+1G>C | ENSP00000390317.3:n.2949+1G>C | |
| ENST00000466382.2:c.410+1G>C | ||
| ENST00000636072.1:n.494+1G>C | ||
| ENST00000636219.1:c.2955+1G>C | ENSP00000489842.1:n.2955+1G>C | |
| ENST00000636794.1:n.407+1G>C | ||
| ENST00000324856.11:c.4101+1G>C | ENSP00000320485.7:n.4101+1G>C | |
| ENST00000374152.6:c.2952+1G>C | ENSP00000363267.2:n.2952+1G>C | |
| ENST00000430799.6:c.790+1G>C | ||
| ENST00000457599.6:c.4101+1G>C | ENSP00000387636.2:n.4101+1G>C | |
| ENST00000466382.1:c.410+1G>C | ||
| ENST00000615191.4:c.2949+1G>C | ENSP00000478955.1:n.2949+1G>C | |
| NM_006015.4:c.4101+1G>C , LRG_875t1:c.4101+1G>C | NP_006006.3:n.4101+1G>C | |
| NM_139135.2:c.4101+1G>C | NP_624361.1:n.4101+1G>C | |
| NM_006015.5:c.4101+1G>C | NP_006006.3:n.4101+1G>C | |
| NM_139135.3:c.4101+1G>C | NP_624361.1:n.4101+1G>C | |
| NM_006015.6:c.4101+1G>C MANE Select | NP_006006.3:n.4101+1G>C | |
| NM_139135.4:c.4101+1G>C | NP_624361.1:n.4101+1G>C |