Linked Data
ClinVar Variation Id:
457133
ClinVar RCV Id:
RCV000539792
dbSNP Id:
rs1008642
gnomAD v4:
3-8733975-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8733975C>A , CM000665.2:g.8733975C>A | GRCh38 |
| NC_000003.11:g.8775661C>A , CM000665.1:g.8775661C>A | GRCh37 |
| NC_000003.10:g.8750661C>A | NCBI36 |
| NG_008797.2:g.5166C>A , LRG_329:g.5166C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.99C>A (CAV3) MANE Select | ENSP00000341940.2:p.Asn33Lys | |
| ENST00000343849.2:c.99C>A (CAV3) | ENSP00000341940.2:p.Asn33Lys | |
| ENST00000397368.2:c.99C>A (CAV3) | ENSP00000380525.2:p.Asn33Lys | |
| ENST00000435138.5:c.64+8484G>T (SSUH2) | ENSP00000412333.1:n.64+8484G>T | |
| ENST00000472766.1:n.140C>A (CAV3) | ||
| ENST00000478513.1:n.335+8484G>T (SSUH2) | ||
| NM_001234.4:c.99C>A (CAV3) | NP_001225.1:p.Asn33Lys | |
| NM_033337.2:c.99C>A , LRG_329t1:c.99C>A (CAV3) | NP_203123.1:p.Asn33Lys | |
| XR_940435.1:n.330+8484G>T (SSUH2) | ||
| XM_017006530.1:c.-283+8484G>T (SSUH2) | XP_016862019.1:n.-283+8484G>T | |
| NM_001234.5:c.99C>A (CAV3) | NP_001225.1:p.Asn33Lys | |
| NM_033337.3:c.99C>A (CAV3) MANE Select | NP_203123.1:p.Asn33Lys |