Linked Data
ClinVar Variation Id:
1679190
ClinVar RCV Id:
RCV002226633
dbSNP Id:
rs2145715940
COSMIC:
COSM4104431
MutSpliceDB:
CA411686319
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41131635T>C , CM000684.2:g.41131635T>C | GRCh38 |
| NC_000022.10:g.41527639T>C , CM000684.1:g.41527639T>C | GRCh37 |
| NC_000022.9:g.39857585T>C | NCBI36 |
| NG_009817.1:g.44026T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703544.1:c.1528+2T>C | ENSP00000515365.1:n.1528+2T>C | |
| ENST00000703545.1:c.1412+2T>C | ||
| ENST00000263253.9:c.1528+2T>C MANE Select | ENSP00000263253.7:n.1528+2T>C | |
| ENST00000674155.1:c.1528+2T>C | ENSP00000501078.1:n.1528+2T>C | |
| ENST00000263253.8:c.1528+2T>C | ENSP00000263253.7:n.1528+2T>C | |
| ENST00000634690.1:c.101+2T>C | ||
| NM_001429.3:c.1528+2T>C | NP_001420.2:n.1528+2T>C | |
| XM_006724165.2:c.1528+2T>C | XP_006724228.1:n.1528+2T>C | |
| NM_001362843.1:c.1528+2T>C | NP_001349772.1:n.1528+2T>C | |
| NM_001429.4:c.1528+2T>C MANE Select | NP_001420.2:n.1528+2T>C | |
| NM_001362843.2:c.1528+2T>C | NP_001349772.1:n.1528+2T>C |