Linked Data
dbSNP Id:
rs10157275
gnomAD v2:
1-65966503-C-T
gnomAD v3:
1-65500820-C-T
gnomAD v4:
1-65500820-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65500820C>T , CM000663.2:g.65500820C>T | GRCh38 |
| NC_000001.10:g.65966503C>T , CM000663.1:g.65966503C>T | GRCh37 |
| NC_000001.9:g.65739091C>T | NCBI36 |
| NG_015831.2:g.85256C>T , LRG_283:g.85256C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349533.11:c.-20-64726C>T MANE Select | ENSP00000330393.7:n.-20-64726C>T | |
| ENST00000349533.10:c.-20-64726C>T | ENSP00000330393.6:n.-20-64726C>T | |
| ENST00000371059.7:c.-20-64726C>T | ENSP00000360098.3:n.-20-64726C>T | |
| ENST00000371060.7:c.-20-64726C>T | ENSP00000360099.3:n.-20-64726C>T | |
| ENST00000406510.7:c.-640-64726C>T | ENSP00000384025.3:n.-640-64726C>T | |
| NM_001003679.3:c.-20-64726C>T , LRG_283t1:c.-20-64726C>T | NP_001003679.1:n.-20-64726C>T | |
| NM_001003680.3:c.-20-64726C>T , LRG_283t2:c.-20-64726C>T | NP_001003680.1:n.-20-64726C>T | |
| NM_002303.5:c.-20-64726C>T , LRG_283t3:c.-20-64726C>T | NP_002294.2:n.-20-64726C>T | |
| NM_002303.6:c.-20-64726C>T MANE Select | NP_002294.2:n.-20-64726C>T |