Linked Data
ClinVar Variation Id:
1606
ClinVar RCV Id:
RCV000001673
dbSNP Id:
rs121908584
gnomAD v3:
14-95535383-A-G
gnomAD v4:
14-95535383-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95535383A>G , CM000676.2:g.95535383A>G | GRCh38 |
| NC_000014.8:g.96001720A>G , CM000676.1:g.96001720A>G | GRCh37 |
| NC_000014.7:g.95071473A>G | NCBI36 |
| NG_021217.1:g.5398A>G | |
| NG_033103.1:g.4490T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331334.5:c.294A>G MANE Select | ENSP00000328570.4:p.Gln98= | |
| ENST00000331334.4:c.294A>G | ENSP00000328570.4:p.Gln98= | |
| ENST00000553672.1:n.301+1580A>G | ||
| ENST00000557731.1:c.110A>G | ||
| NM_016417.2:c.294A>G | NP_057501.2:p.Gln98= | |
| NM_016417.3:c.294A>G MANE Select | NP_057501.2:p.Gln98= |