Linked Data
ClinVar Variation Id:
1534180
ClinVar RCV Id:
RCV002076597
dbSNP Id:
rs1345197074
gnomAD v2:
4-100543817-T-G
gnomAD v4:
4-99622660-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99622660T>G , CM000666.2:g.99622660T>G | GRCh38 |
| NC_000004.11:g.100543817T>G , CM000666.1:g.100543817T>G | GRCh37 |
| NC_000004.10:g.100762840T>G | NCBI36 |
| NG_011469.1:g.63578T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.2514-17T>G MANE Select | ENSP00000265517.5:n.2514-17T>G | |
| ENST00000457717.6:c.2514-17T>G | ENSP00000400821.1:n.2514-17T>G | |
| ENST00000511045.6:c.2265-17T>G | ENSP00000427679.2:n.2265-17T>G | |
| ENST00000265517.9:c.2514-17T>G | ENSP00000265517.5:n.2514-17T>G | |
| ENST00000457717.5:c.2514-17T>G | ENSP00000400821.1:n.2514-17T>G | |
| ENST00000511045.5:c.2595-17T>G | ENSP00000427679.1:n.2595-17T>G | |
| ENST00000619629.1:c.*961-17T>G | ENSP00000482850.1:n.*961-17T>G | |
| NM_000253.3:c.2514-17T>G | NP_000244.2:n.2514-17T>G | |
| NM_001300785.1:c.2595-17T>G | NP_001287714.1:n.2595-17T>G | |
| NM_000253.4:c.2514-17T>G | NP_000244.2:n.2514-17T>G | |
| NM_001300785.2:c.2265-17T>G | NP_001287714.2:n.2265-17T>G | |
| NM_001386140.1:c.2514-17T>G MANE Select | NP_001373069.1:n.2514-17T>G |