Linked Data
ClinVar Variation Id:
1263708
ClinVar RCV Id:
RCV001674702
dbSNP Id:
rs9383935
gnomAD v2:
6-151939848-C-T
gnomAD v3:
6-151618713-C-T
gnomAD v4:
6-151618713-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151618713C>T , CM000668.2:g.151618713C>T | GRCh38 |
| NC_000006.11:g.151939848C>T , CM000668.1:g.151939848C>T | GRCh37 |
| NC_000006.10:g.151981541C>T | NCBI36 |
| NG_021198.1:g.129674C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000239374.8:c.*566C>T MANE Select | ENSP00000239374.6:n.*566C>T | |
| ENST00000239374.7:c.*566C>T | ENSP00000239374.6:n.*566C>T | |
| NM_025059.3:c.*566C>T | NP_079335.2:n.*566C>T | |
| XM_011536147.1:c.*566C>T | XP_011534449.1:n.*566C>T | |
| XM_011536148.1:c.*566C>T | XP_011534450.1:n.*566C>T | |
| XM_011536147.2:c.*566C>T | XP_011534449.1:n.*566C>T | |
| XM_011536148.2:c.*566C>T | XP_011534450.1:n.*566C>T | |
| NM_025059.4:c.*566C>T MANE Select | NP_079335.2:n.*566C>T |