Linked Data
ClinVar Variation Id:
320220
ClinVar RCV Id:
RCV000284698
dbSNP Id:
rs557660477
gnomAD v2:
16-68679211-T-C
gnomAD v3:
16-68645308-T-C
gnomAD v4:
16-68645308-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68645308T>C , CM000678.2:g.68645308T>C | GRCh38 |
| NC_000016.9:g.68679211T>C , CM000678.1:g.68679211T>C | GRCh37 |
| NC_000016.8:g.67236712T>C | NCBI36 |
| NG_009096.1:g.6061T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264012.8:c.-72T>C | ENSP00000264012.4:n.-72T>C | |
| ENST00000429102.6:c.-72T>C | ENSP00000398485.2:n.-72T>C | |
| ENST00000542274.5:c.-72T>C | ENSP00000464021.1:n.-72T>C | |
| ENST00000565453.1:n.522T>C | ||
| NM_001793.4:c.-72T>C | NP_001784.2:n.-72T>C | |
| XM_011522800.1:c.-72T>C | XP_011521102.1:n.-72T>C | |
| NM_001317195.1:c.-72T>C | NP_001304124.1:n.-72T>C | |
| NM_001317196.1:c.-122T>C | NP_001304125.1:n.-122T>C | |
| NM_001793.5:c.-72T>C | NP_001784.2:n.-72T>C | |
| XM_011522800.3:c.-72T>C | XP_011521102.1:n.-72T>C |