Linked Data
dbSNP Id:
rs56184183
ExAC:
11:102733812 A / C
gnomAD v2:
11-102733812-A-C
gnomAD v3:
11-102863081-A-C
gnomAD v4:
11-102863081-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102863081A>C , CM000673.2:g.102863081A>C | GRCh38 |
| NC_000011.9:g.102733812A>C , CM000673.1:g.102733812A>C | GRCh37 |
| NC_000011.8:g.102239022A>C | NCBI36 |
| NG_032936.1:g.16954T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000571244.3:c.*19T>G MANE Select | ENSP00000458585.1:n.*19T>G | |
| ENST00000571244.2:c.*19T>G | ENSP00000458585.1:n.*19T>G | |
| NM_002426.4:c.*19T>G | NP_002417.2:n.*19T>G | |
| NM_002426.5:c.*19T>G | NP_002417.2:n.*19T>G | |
| NM_002426.6:c.*19T>G MANE Select | NP_002417.2:n.*19T>G |