Linked Data
ClinVar Variation Id:
361135
dbSNP Id:
rs761021253
gnomAD v2:
8-103217383-T-C
gnomAD v3:
8-102205155-T-C
gnomAD v4:
8-102205155-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102205155T>C , CM000670.2:g.102205155T>C | GRCh38 |
| NC_000008.10:g.103217383T>C , CM000670.1:g.103217383T>C | GRCh37 |
| NC_000008.9:g.103286559T>C | NCBI36 |
| NG_016617.1:g.38964A>G , LRG_788:g.38964A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.*2978A>G MANE Select | ENSP00000251810.3:n.*2978A>G | |
| ENST00000251810.7:c.*2978A>G | ENSP00000251810.3:n.*2978A>G | |
| NM_001172477.1:c.*2978A>G , LRG_788t1:c.*2978A>G | NP_001165948.1:n.*2978A>G | |
| NM_001172478.1:c.*2978A>G | NP_001165949.1:n.*2978A>G | |
| NM_015713.4:c.*2978A>G , LRG_788t2:c.*2978A>G | NP_056528.2:n.*2978A>G | |
| NM_001172478.2:c.*2978A>G | NP_001165949.1:n.*2978A>G | |
| NM_015713.5:c.*2978A>G MANE Select | NP_056528.2:n.*2978A>G |