Linked Data
dbSNP Id:
rs553020571
gnomAD v2:
3-8780479-G-A
gnomAD v3:
3-8738793-G-A
gnomAD v4:
3-8738793-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8738793G>A , CM000665.2:g.8738793G>A | GRCh38 |
| NC_000003.11:g.8780479G>A , CM000665.1:g.8780479G>A | GRCh37 |
| NC_000003.10:g.8755479G>A | NCBI36 |
| NG_008797.2:g.9984G>A , LRG_329:g.9984G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.114+4803G>A (CAV3) MANE Select | ENSP00000341940.2:n.114+4803G>A | |
| ENST00000343849.2:c.114+4803G>A (CAV3) | ENSP00000341940.2:n.114+4803G>A | |
| ENST00000397368.2:c.114+4803G>A (CAV3) | ENSP00000380525.2:n.114+4803G>A | |
| ENST00000435138.5:c.64+3666C>T (SSUH2) | ENSP00000412333.1:n.64+3666C>T | |
| ENST00000472766.1:n.155+4803G>A (CAV3) | ||
| ENST00000478513.1:n.335+3666C>T (SSUH2) | ||
| NM_001234.4:c.114+4803G>A (CAV3) | NP_001225.1:n.114+4803G>A | |
| NM_033337.2:c.114+4803G>A , LRG_329t1:c.114+4803G>A (CAV3) | NP_203123.1:n.114+4803G>A | |
| XR_940435.1:n.330+3666C>T (SSUH2) | ||
| XM_017006530.1:c.-283+3666C>T (SSUH2) | XP_016862019.1:n.-283+3666C>T | |
| NM_001234.5:c.114+4803G>A (CAV3) | NP_001225.1:n.114+4803G>A | |
| NM_033337.3:c.114+4803G>A (CAV3) MANE Select | NP_203123.1:n.114+4803G>A |