Linked Data
ClinVar Variation Id:
359462
dbSNP Id:
rs576133569
gnomAD v2:
7-157209098-C-T
gnomAD v3:
7-157416404-C-T
gnomAD v4:
7-157416404-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157416404C>T , CM000669.2:g.157416404C>T | GRCh38 |
| NC_000007.13:g.157209098C>T , CM000669.1:g.157209098C>T | GRCh37 |
| NC_000007.12:g.156901859C>T | NCBI36 |
| NG_032573.1:g.84389C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262177.9:c.*306C>T MANE Select | ENSP00000262177.4:n.*306C>T | |
| ENST00000262177.8:c.*306C>T | ENSP00000262177.4:n.*306C>T | |
| ENST00000443280.5:c.*306C>T | ENSP00000396267.1:n.*306C>T | |
| ENST00000459889.5:c.*5810C>T | ENSP00000488263.1:n.*5810C>T | |
| NM_058246.3:c.*306C>T | NP_490647.1:n.*306C>T | |
| XM_006715823.1:c.*306C>T | XP_006715886.1:n.*306C>T | |
| NM_001363676.1:c.*306C>T | NP_001350605.1:n.*306C>T | |
| XM_006715823.2:c.*306C>T | XP_006715886.1:n.*306C>T | |
| NM_058246.4:c.*306C>T MANE Select | NP_490647.1:n.*306C>T |