Linked Data
ClinVar Variation Id:
361138
dbSNP Id:
rs189278573
gnomAD v2:
8-103217539-T-A
gnomAD v3:
8-102205311-T-A
gnomAD v4:
8-102205311-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102205311T>A , CM000670.2:g.102205311T>A | GRCh38 |
| NC_000008.10:g.103217539T>A , CM000670.1:g.103217539T>A | GRCh37 |
| NC_000008.9:g.103286715T>A | NCBI36 |
| NG_016617.1:g.38808A>T , LRG_788:g.38808A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.*2822A>T MANE Select | ENSP00000251810.3:n.*2822A>T | |
| ENST00000251810.7:c.*2822A>T | ENSP00000251810.3:n.*2822A>T | |
| NM_001172477.1:c.*2822A>T , LRG_788t1:c.*2822A>T | NP_001165948.1:n.*2822A>T | |
| NM_001172478.1:c.*2822A>T | NP_001165949.1:n.*2822A>T | |
| NM_015713.4:c.*2822A>T , LRG_788t2:c.*2822A>T | NP_056528.2:n.*2822A>T | |
| NM_001172478.2:c.*2822A>T | NP_001165949.1:n.*2822A>T | |
| NM_015713.5:c.*2822A>T MANE Select | NP_056528.2:n.*2822A>T |