Linked Data
ClinVar Variation Id:
1968413
ClinVar RCV Id:
RCV002711769
dbSNP Id:
rs761305722
gnomAD v4:
14-58427653-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.58427653C>T , CM000676.2:g.58427653C>T | GRCh38 |
| NC_000014.8:g.58894371C>T , CM000676.1:g.58894371C>T | GRCh37 |
| NC_000014.7:g.57964124C>T | NCBI36 |
| NG_051335.2:g.5269C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619722.5:c.-57+16C>T | ENSP00000481936.1:n.-57+16C>T | |
| ENST00000354386.10:c.9+16C>T | ENSP00000346359.6:n.9+16C>T | |
| ENST00000423743.7:c.-57+16C>T | ENSP00000399427.3:n.-57+16C>T | |
| ENST00000556134.5:c.-249+16C>T | ENSP00000452351.2:n.-249+16C>T | |
| ENST00000619416.4:c.-39+16C>T | ENSP00000478083.1:n.-39+16C>T | |
| ENST00000619722.4:c.-57+16C>T | ENSP00000481936.1:n.-57+16C>T | |
| NM_001244189.1:c.9+16C>T | NP_001231118.1:n.9+16C>T | |
| NM_001244190.1:c.-39+16C>T | NP_001231119.1:n.-39+16C>T | |
| NM_001244191.1:c.-57+16C>T | NP_001231120.1:n.-57+16C>T | |
| NM_001244192.1:c.-57+16C>T | NP_001231121.1:n.-57+16C>T | |
| XM_024449784.1:c.-57+16C>T | XP_024305552.1:n.-57+16C>T | |
| NM_001244189.2:c.9+16C>T | NP_001231118.1:n.9+16C>T | |
| NM_001244190.2:c.-39+16C>T | NP_001231119.1:n.-39+16C>T | |
| NM_001244192.2:c.-57+16C>T | NP_001231121.1:n.-57+16C>T | |
| NM_001244191.2:c.-57+16C>T | NP_001231120.1:n.-57+16C>T |