Linked Data
ClinVar Variation Id:
1334139
ClinVar RCV Id:
RCV001810524
dbSNP Id:
rs2145769929
gnomAD v4:
22-41172497-A-G
COSMIC:
COSM6008973
MutSpliceDB:
CA411702416
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41172497A>G , CM000684.2:g.41172497A>G | GRCh38 |
| NC_000022.10:g.41568501A>G , CM000684.1:g.41568501A>G | GRCh37 |
| NC_000022.9:g.39898447A>G | NCBI36 |
| NG_009817.1:g.84888A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703544.1:c.*2373-2A>G | ENSP00000515365.1:n.*2373-2A>G | |
| ENST00000263253.9:c.4453-2A>G MANE Select | ENSP00000263253.7:n.4453-2A>G | |
| ENST00000674155.1:c.4375-2A>G | ENSP00000501078.1:n.4375-2A>G | |
| ENST00000263253.8:c.4453-2A>G | ENSP00000263253.7:n.4453-2A>G | |
| NM_001429.3:c.4453-2A>G | NP_001420.2:n.4453-2A>G | |
| XM_006724165.2:c.4375-2A>G | XP_006724228.1:n.4375-2A>G | |
| NM_001362843.1:c.4375-2A>G | NP_001349772.1:n.4375-2A>G | |
| NM_001429.4:c.4453-2A>G MANE Select | NP_001420.2:n.4453-2A>G | |
| NM_001362843.2:c.4375-2A>G | NP_001349772.1:n.4375-2A>G |