Linked Data
ClinVar Variation Id:
303702
ClinVar RCV Id:
RCV000387192
dbSNP Id:
rs369469373
ExAC:
11:13513901 T / C
gnomAD v2:
11-13513901-T-C
gnomAD v3:
11-13492354-T-C
gnomAD v4:
11-13492354-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13492354T>C , CM000673.2:g.13492354T>C | GRCh38 |
| NC_000011.9:g.13513901T>C , CM000673.1:g.13513901T>C | GRCh37 |
| NC_000011.8:g.13470477T>C | NCBI36 |
| NG_008962.1:g.8667A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282091.6:c.*51A>G MANE Select | ENSP00000282091.1:n.*51A>G | |
| ENST00000282091.5:c.*51A>G | ENSP00000282091.1:n.*51A>G | |
| ENST00000529816.1:c.*51A>G | ENSP00000433208.1:n.*51A>G | |
| NM_000315.2:c.*51A>G | NP_000306.1:n.*51A>G | |
| NM_000315.3:c.*51A>G | NP_000306.1:n.*51A>G | |
| NM_001316352.1:c.*51A>G | NP_001303281.1:n.*51A>G | |
| NM_000315.4:c.*51A>G MANE Select | NP_000306.1:n.*51A>G | |
| NM_001316352.2:c.*51A>G | NP_001303281.1:n.*51A>G |