Linked Data
ClinVar Variation Id:
1334137
ClinVar RCV Id:
RCV001810522
dbSNP Id:
rs2102058499
MutSpliceDB:
CA344078079
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193233155G>A , CM000663.2:g.193233155G>A | GRCh38 |
| NC_000001.10:g.193202285G>A , CM000663.1:g.193202285G>A | GRCh37 |
| NC_000001.9:g.191468908G>A | NCBI36 |
| NG_012691.1:g.116198G>A , LRG_507:g.116198G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.1316+1G>A MANE Select | ENSP00000356405.4:n.1316+1G>A | |
| ENST00000635846.1:c.1073+1G>A | ENSP00000490035.1:n.1073+1G>A | |
| ENST00000643006.1:c.*226+1G>A | ENSP00000496633.1:n.*226+1G>A | |
| ENST00000648071.1:c.*1292+1G>A | ENSP00000497513.1:n.*1292+1G>A | |
| ENST00000649613.1:n.566+1G>A | ||
| ENST00000649895.1:n.1534+1G>A | ||
| ENST00000650197.1:c.1316+1G>A | ENSP00000496929.1:n.1316+1G>A | |
| ENST00000367435.3:c.1316+1G>A | ENSP00000356405.3:n.1316+1G>A | |
| ENST00000477868.1:n.129+1G>A | ||
| NM_024529.4:c.1316+1G>A , LRG_507t1:c.1316+1G>A | NP_078805.3:n.1316+1G>A | |
| NM_024529.5:c.1316+1G>A MANE Select | NP_078805.3:n.1316+1G>A |