Linked Data
ClinVar Variation Id:
339171
ClinVar RCV Id:
RCV000390454
dbSNP Id:
rs529395851
gnomAD v2:
20-6055702-T-C
gnomAD v3:
20-6075055-T-C
gnomAD v4:
20-6075055-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6075055T>C , CM000682.2:g.6075055T>C | GRCh38 |
| NC_000020.10:g.6055702T>C , CM000682.1:g.6055702T>C | GRCh37 |
| NC_000020.9:g.6003702T>C | NCBI36 |
| NG_016213.1:g.53490A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217289.9:c.*2118A>G MANE Select | ENSP00000217289.4:n.*2118A>G | |
| ENST00000217289.8:c.*2118A>G | ENSP00000217289.4:n.*2118A>G | |
| ENST00000478194.1:n.3112A>G | ||
| NM_017671.4:c.*2118A>G | NP_060141.3:n.*2118A>G | |
| XM_024451935.1:c.*2118A>G | XP_024307703.1:n.*2118A>G | |
| NM_017671.5:c.*2118A>G MANE Select | NP_060141.3:n.*2118A>G |