Linked Data
ClinVar Variation Id:
2576525
ClinVar RCV Id:
RCV003322584
dbSNP Id:
rs2145770572
COSMIC:
COSM88793
MutSpliceDB:
CA411703776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41172664G>A , CM000684.2:g.41172664G>A | GRCh38 |
| NC_000022.10:g.41568668G>A , CM000684.1:g.41568668G>A | GRCh37 |
| NC_000022.9:g.39898614G>A | NCBI36 |
| NG_009817.1:g.85055G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703544.1:c.*2537+1G>A | ENSP00000515365.1:n.*2537+1G>A | |
| ENST00000263253.9:c.4617+1G>A MANE Select | ENSP00000263253.7:n.4617+1G>A | |
| ENST00000674155.1:c.4539+1G>A | ENSP00000501078.1:n.4539+1G>A | |
| ENST00000263253.8:c.4617+1G>A | ENSP00000263253.7:n.4617+1G>A | |
| NM_001429.3:c.4617+1G>A | NP_001420.2:n.4617+1G>A | |
| XM_006724165.2:c.4539+1G>A | XP_006724228.1:n.4539+1G>A | |
| NM_001362843.1:c.4539+1G>A | NP_001349772.1:n.4539+1G>A | |
| NM_001429.4:c.4617+1G>A MANE Select | NP_001420.2:n.4617+1G>A | |
| NM_001362843.2:c.4539+1G>A | NP_001349772.1:n.4539+1G>A |