Linked Data
ClinVar Variation Id:
637987
dbSNP Id:
rs753431407
ExAC:
3:8775651 A / G
gnomAD v2:
3-8775651-A-G
gnomAD v3:
3-8733965-A-G
gnomAD v4:
3-8733965-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8733965A>G , CM000665.2:g.8733965A>G | GRCh38 |
| NC_000003.11:g.8775651A>G , CM000665.1:g.8775651A>G | GRCh37 |
| NC_000003.10:g.8750651A>G | NCBI36 |
| NG_008797.2:g.5156A>G , LRG_329:g.5156A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.89A>G (CAV3) MANE Select | ENSP00000341940.2:p.Lys30Arg | |
| ENST00000343849.2:c.89A>G (CAV3) | ENSP00000341940.2:p.Lys30Arg | |
| ENST00000397368.2:c.89A>G (CAV3) | ENSP00000380525.2:p.Lys30Arg | |
| ENST00000435138.5:c.64+8494T>C (SSUH2) | ENSP00000412333.1:n.64+8494T>C | |
| ENST00000472766.1:n.130A>G (CAV3) | ||
| ENST00000478513.1:n.335+8494T>C (SSUH2) | ||
| NM_001234.4:c.89A>G (CAV3) | NP_001225.1:p.Lys30Arg | |
| NM_033337.2:c.89A>G , LRG_329t1:c.89A>G (CAV3) | NP_203123.1:p.Lys30Arg | |
| XR_940435.1:n.330+8494T>C (SSUH2) | ||
| XM_017006530.1:c.-283+8494T>C (SSUH2) | XP_016862019.1:n.-283+8494T>C | |
| NM_001234.5:c.89A>G (CAV3) | NP_001225.1:p.Lys30Arg | |
| NM_033337.3:c.89A>G (CAV3) MANE Select | NP_203123.1:p.Lys30Arg |