Linked Data
ClinVar Variation Id:
339177
ClinVar RCV Id:
RCV000260025
dbSNP Id:
rs6117066
gnomAD v2:
20-6055804-A-T
gnomAD v3:
20-6075157-A-T
gnomAD v4:
20-6075157-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6075157A>T , CM000682.2:g.6075157A>T | GRCh38 |
| NC_000020.10:g.6055804A>T , CM000682.1:g.6055804A>T | GRCh37 |
| NC_000020.9:g.6003804A>T | NCBI36 |
| NG_016213.1:g.53388T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217289.9:c.*2016T>A MANE Select | ENSP00000217289.4:n.*2016T>A | |
| ENST00000217289.8:c.*2016T>A | ENSP00000217289.4:n.*2016T>A | |
| ENST00000478194.1:n.3010T>A | ||
| NM_017671.4:c.*2016T>A | NP_060141.3:n.*2016T>A | |
| XM_024451935.1:c.*2016T>A | XP_024307703.1:n.*2016T>A | |
| NM_017671.5:c.*2016T>A MANE Select | NP_060141.3:n.*2016T>A |