Linked Data
ClinVar Variation Id:
292274
dbSNP Id:
rs1819698
gnomAD v2:
1-119965519-C-T
gnomAD v3:
1-119422896-C-T
gnomAD v4:
1-119422896-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119422896C>T , CM000663.2:g.119422896C>T | GRCh38 |
| NC_000001.10:g.119965519C>T , CM000663.1:g.119965519C>T | GRCh37 |
| NC_000001.9:g.119767042C>T | NCBI36 |
| NG_013349.1:g.12966C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369416.4:c.*276C>T MANE Select | ENSP00000358424.3:n.*276C>T | |
| ENST00000369416.3:c.*276C>T | ENSP00000358424.3:n.*276C>T | |
| ENST00000543831.5:c.*276C>T | ENSP00000445122.1:n.*276C>T | |
| NM_000198.3:c.*276C>T | NP_000189.1:n.*276C>T | |
| NM_001166120.1:c.*276C>T | NP_001159592.1:n.*276C>T | |
| NM_000198.4:c.*276C>T MANE Select | NP_000189.1:n.*276C>T | |
| NM_001166120.2:c.*276C>T | NP_001159592.1:n.*276C>T |