Linked Data
ClinVar Variation Id:
361157
dbSNP Id:
rs140164634
gnomAD v2:
8-103218760-T-C
gnomAD v3:
8-102206532-T-C
gnomAD v4:
8-102206532-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102206532T>C , CM000670.2:g.102206532T>C | GRCh38 |
| NC_000008.10:g.103218760T>C , CM000670.1:g.103218760T>C | GRCh37 |
| NC_000008.9:g.103287936T>C | NCBI36 |
| NG_016617.1:g.37587A>G , LRG_788:g.37587A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.*1601A>G MANE Select | ENSP00000251810.3:n.*1601A>G | |
| ENST00000251810.7:c.*1601A>G | ENSP00000251810.3:n.*1601A>G | |
| ENST00000621845.1:c.*1461A>G | ENSP00000484318.1:n.*1461A>G | |
| NM_001172477.1:c.*1601A>G , LRG_788t1:c.*1601A>G | NP_001165948.1:n.*1601A>G | |
| NM_001172478.1:c.*1601A>G | NP_001165949.1:n.*1601A>G | |
| NM_015713.4:c.*1601A>G , LRG_788t2:c.*1601A>G | NP_056528.2:n.*1601A>G | |
| NM_001172478.2:c.*1601A>G | NP_001165949.1:n.*1601A>G | |
| NM_015713.5:c.*1601A>G MANE Select | NP_056528.2:n.*1601A>G |