Linked Data
ClinVar Variation Id:
361133
dbSNP Id:
rs113860402
gnomAD v2:
8-103217283-C-A
gnomAD v3:
8-102205055-C-A
gnomAD v4:
8-102205055-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102205055C>A , CM000670.2:g.102205055C>A | GRCh38 |
| NC_000008.10:g.103217283C>A , CM000670.1:g.103217283C>A | GRCh37 |
| NC_000008.9:g.103286459C>A | NCBI36 |
| NG_016617.1:g.39064G>T , LRG_788:g.39064G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.*3078G>T MANE Select | ENSP00000251810.3:n.*3078G>T | |
| ENST00000251810.7:c.*3078G>T | ENSP00000251810.3:n.*3078G>T | |
| NM_001172477.1:c.*3078G>T , LRG_788t1:c.*3078G>T | NP_001165948.1:n.*3078G>T | |
| NM_001172478.1:c.*3078G>T | NP_001165949.1:n.*3078G>T | |
| NM_015713.4:c.*3078G>T , LRG_788t2:c.*3078G>T | NP_056528.2:n.*3078G>T | |
| NM_001172478.2:c.*3078G>T | NP_001165949.1:n.*3078G>T | |
| NM_015713.5:c.*3078G>T MANE Select | NP_056528.2:n.*3078G>T |