Linked Data
ClinVar Variation Id:
299348
ClinVar RCV Id:
RCV000271613
dbSNP Id:
rs886046860
gnomAD v4:
10-16824798-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.16824798G>C , CM000672.2:g.16824798G>C | GRCh38 |
| NC_000010.10:g.16866797G>C , CM000672.1:g.16866797G>C | GRCh37 |
| NC_000010.9:g.16906803G>C | NCBI36 |
| NG_008967.1:g.310020C>G , LRG_540:g.310020C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377833.10:c.*177C>G MANE Select | ENSP00000367064.4:n.*177C>G | |
| ENST00000377833.8:c.*177C>G | ENSP00000367064.4:n.*177C>G | |
| NM_001081.3:c.*177C>G , LRG_540t1:c.*177C>G | NP_001072.2:n.*177C>G | |
| XM_011519709.1:c.*177C>G | XP_011518011.1:n.*177C>G | |
| XM_011519710.1:c.*177C>G | XP_011518012.1:n.*177C>G | |
| XM_011519711.1:c.*177C>G | XP_011518013.1:n.*177C>G | |
| XM_011519709.2:c.*177C>G | XP_011518011.1:n.*177C>G | |
| XM_011519710.2:c.*177C>G | XP_011518012.1:n.*177C>G | |
| XM_011519711.3:c.*177C>G | XP_011518013.1:n.*177C>G | |
| NM_001081.4:c.*177C>G MANE Select | NP_001072.2:n.*177C>G |