Linked Data
ClinVar Variation Id:
297317
ClinVar RCV Id:
RCV000285914
dbSNP Id:
rs765727450
gnomAD v3:
1-42733388-T-C
gnomAD v4:
1-42733388-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42733388T>C , CM000663.2:g.42733388T>C | GRCh38 |
| NC_000001.10:g.43199059T>C , CM000663.1:g.43199059T>C | GRCh37 |
| NC_000001.9:g.42971646T>C | NCBI36 |
| NG_008993.1:g.11867A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296387.6:c.*1698A>G MANE Select | ENSP00000296387.1:n.*1698A>G | |
| ENST00000296387.5:c.*1698A>G | ENSP00000296387.1:n.*1698A>G | |
| ENST00000539749.5:c.*2374A>G | ENSP00000443229.1:n.*2374A>G | |
| NM_001123395.1:c.*2480A>G | NP_001116867.1:n.*2480A>G | |
| NM_001185117.1:c.*2374A>G | NP_001172046.1:n.*2374A>G | |
| NM_148960.2:c.*1698A>G | NP_683763.2:n.*1698A>G | |
| NM_001123395.2:c.*2480A>G | NP_001116867.1:n.*2480A>G | |
| NM_148960.3:c.*1698A>G MANE Select | NP_683763.2:n.*1698A>G | |
| NM_001185117.2:c.*2374A>G | NP_001172046.1:n.*2374A>G |