Linked Data
ClinVar Variation Id:
361167
dbSNP Id:
rs190474682
gnomAD v2:
8-103219544-C-T
gnomAD v3:
8-102207316-C-T
gnomAD v4:
8-102207316-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102207316C>T , CM000670.2:g.102207316C>T | GRCh38 |
| NC_000008.10:g.103219544C>T , CM000670.1:g.103219544C>T | GRCh37 |
| NC_000008.9:g.103288720C>T | NCBI36 |
| NG_016617.1:g.36803G>A , LRG_788:g.36803G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.*817G>A MANE Select | ENSP00000251810.3:n.*817G>A | |
| ENST00000251810.7:c.*817G>A | ENSP00000251810.3:n.*817G>A | |
| ENST00000621845.1:c.*807+10G>A | ENSP00000484318.1:n.*807+10G>A | |
| NM_001172477.1:c.*817G>A , LRG_788t1:c.*817G>A | NP_001165948.1:n.*817G>A | |
| NM_001172478.1:c.*817G>A | NP_001165949.1:n.*817G>A | |
| NM_015713.4:c.*817G>A , LRG_788t2:c.*817G>A | NP_056528.2:n.*817G>A | |
| NM_001172478.2:c.*817G>A | NP_001165949.1:n.*817G>A | |
| NM_015713.5:c.*817G>A MANE Select | NP_056528.2:n.*817G>A |