Linked Data
ClinVar Variation Id:
1420882
ClinVar RCV Id:
RCV001943663
dbSNP Id:
rs377092385
gnomAD v2:
4-100543831-C-A
gnomAD v3:
4-99622674-C-A
gnomAD v4:
4-99622674-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99622674C>A , CM000666.2:g.99622674C>A | GRCh38 |
| NC_000004.11:g.100543831C>A , CM000666.1:g.100543831C>A | GRCh37 |
| NC_000004.10:g.100762854C>A | NCBI36 |
| NG_011469.1:g.63592C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.2514-3C>A MANE Select | ENSP00000265517.5:n.2514-3C>A | |
| ENST00000457717.6:c.2514-3C>A | ENSP00000400821.1:n.2514-3C>A | |
| ENST00000511045.6:c.2265-3C>A | ENSP00000427679.2:n.2265-3C>A | |
| ENST00000265517.9:c.2514-3C>A | ENSP00000265517.5:n.2514-3C>A | |
| ENST00000457717.5:c.2514-3C>A | ENSP00000400821.1:n.2514-3C>A | |
| ENST00000511045.5:c.2595-3C>A | ENSP00000427679.1:n.2595-3C>A | |
| ENST00000619629.1:c.*961-3C>A | ENSP00000482850.1:n.*961-3C>A | |
| NM_000253.3:c.2514-3C>A | NP_000244.2:n.2514-3C>A | |
| NM_001300785.1:c.2595-3C>A | NP_001287714.1:n.2595-3C>A | |
| NM_000253.4:c.2514-3C>A | NP_000244.2:n.2514-3C>A | |
| NM_001300785.2:c.2265-3C>A | NP_001287714.2:n.2265-3C>A | |
| NM_001386140.1:c.2514-3C>A MANE Select | NP_001373069.1:n.2514-3C>A |