Linked Data
ClinVar Variation Id:
361130
dbSNP Id:
rs569359604
gnomAD v3:
8-102204844-T-C
gnomAD v4:
8-102204844-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102204844T>C , CM000670.2:g.102204844T>C | GRCh38 |
| NC_000008.10:g.103217072T>C , CM000670.1:g.103217072T>C | GRCh37 |
| NC_000008.9:g.103286248T>C | NCBI36 |
| NG_016617.1:g.39275A>G , LRG_788:g.39275A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.*3289A>G MANE Select | ENSP00000251810.3:n.*3289A>G | |
| ENST00000251810.7:c.*3289A>G | ENSP00000251810.3:n.*3289A>G | |
| NM_001172477.1:c.*3289A>G , LRG_788t1:c.*3289A>G | NP_001165948.1:n.*3289A>G | |
| NM_001172478.1:c.*3289A>G | NP_001165949.1:n.*3289A>G | |
| NM_015713.4:c.*3289A>G , LRG_788t2:c.*3289A>G | NP_056528.2:n.*3289A>G | |
| NM_001172478.2:c.*3289A>G | NP_001165949.1:n.*3289A>G | |
| NM_015713.5:c.*3289A>G MANE Select | NP_056528.2:n.*3289A>G |