Linked Data
ClinVar Variation Id:
96239
dbSNP Id:
rs374523166
ExAC:
3:8775671 G / C
gnomAD v2:
3-8775671-G-C
gnomAD v3:
3-8733985-G-C
gnomAD v4:
3-8733985-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8733985G>C , CM000665.2:g.8733985G>C | GRCh38 |
| NC_000003.11:g.8775671G>C , CM000665.1:g.8775671G>C | GRCh37 |
| NC_000003.10:g.8750671G>C | NCBI36 |
| NG_008797.2:g.5176G>C , LRG_329:g.5176G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.109G>C (CAV3) MANE Select | ENSP00000341940.2:p.Val37Leu | |
| ENST00000343849.2:c.109G>C (CAV3) | ENSP00000341940.2:p.Val37Leu | |
| ENST00000397368.2:c.109G>C (CAV3) | ENSP00000380525.2:p.Val37Leu | |
| ENST00000435138.5:c.64+8474C>G (SSUH2) | ENSP00000412333.1:n.64+8474C>G | |
| ENST00000472766.1:n.150G>C (CAV3) | ||
| ENST00000478513.1:n.335+8474C>G (SSUH2) | ||
| NM_001234.4:c.109G>C (CAV3) | NP_001225.1:p.Val37Leu | |
| NM_033337.2:c.109G>C , LRG_329t1:c.109G>C (CAV3) | NP_203123.1:p.Val37Leu | |
| XR_940435.1:n.330+8474C>G (SSUH2) | ||
| XM_017006530.1:c.-283+8474C>G (SSUH2) | XP_016862019.1:n.-283+8474C>G | |
| NM_001234.5:c.109G>C (CAV3) | NP_001225.1:p.Val37Leu | |
| NM_033337.3:c.109G>C (CAV3) MANE Select | NP_203123.1:p.Val37Leu |