Linked Data
ClinVar Variation Id:
320214
ClinVar RCV Id:
RCV000263804
dbSNP Id:
rs145687049
gnomAD v3:
16-68645078-C-T
gnomAD v4:
16-68645078-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68645078C>T , CM000678.2:g.68645078C>T | GRCh38 |
| NC_000016.9:g.68678981C>T , CM000678.1:g.68678981C>T | GRCh37 |
| NC_000016.8:g.67236482C>T | NCBI36 |
| NG_009096.1:g.5831C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264012.8:c.-302C>T | ENSP00000264012.4:n.-302C>T | |
| ENST00000429102.6:c.-302C>T | ENSP00000398485.2:n.-302C>T | |
| ENST00000565453.1:n.292C>T | ||
| NM_001793.4:c.-302C>T | NP_001784.2:n.-302C>T | |
| XM_011522800.1:c.-302C>T | XP_011521102.1:n.-302C>T | |
| NM_001317195.1:c.-302C>T | NP_001304124.1:n.-302C>T | |
| NM_001317196.1:c.-352C>T | NP_001304125.1:n.-352C>T | |
| NM_001793.5:c.-302C>T | NP_001784.2:n.-302C>T | |
| XM_011522800.3:c.-302C>T | XP_011521102.1:n.-302C>T |