Linked Data
ClinVar Variation Id:
320216
ClinVar RCV Id:
RCV000373279
dbSNP Id:
rs182969772
gnomAD v2:
16-68679016-C-T
gnomAD v3:
16-68645113-C-T
gnomAD v4:
16-68645113-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68645113C>T , CM000678.2:g.68645113C>T | GRCh38 |
| NC_000016.9:g.68679016C>T , CM000678.1:g.68679016C>T | GRCh37 |
| NC_000016.8:g.67236517C>T | NCBI36 |
| NG_009096.1:g.5866C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264012.8:c.-267C>T | ENSP00000264012.4:n.-267C>T | |
| ENST00000429102.6:c.-267C>T | ENSP00000398485.2:n.-267C>T | |
| ENST00000565453.1:n.327C>T | ||
| NM_001793.4:c.-267C>T | NP_001784.2:n.-267C>T | |
| XM_011522800.1:c.-267C>T | XP_011521102.1:n.-267C>T | |
| NM_001317195.1:c.-267C>T | NP_001304124.1:n.-267C>T | |
| NM_001317196.1:c.-317C>T | NP_001304125.1:n.-317C>T | |
| NM_001793.5:c.-267C>T | NP_001784.2:n.-267C>T | |
| XM_011522800.3:c.-267C>T | XP_011521102.1:n.-267C>T |