Linked Data
ClinVar Variation Id:
285913
dbSNP Id:
rs372210790
ExAC:
11:46900872 A / C
gnomAD v2:
11-46900872-A-C
gnomAD v3:
11-46879321-A-C
gnomAD v4:
11-46879321-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46879321A>C , CM000673.2:g.46879321A>C | GRCh38 |
| NC_000011.9:g.46900872A>C , CM000673.1:g.46900872A>C | GRCh37 |
| NC_000011.8:g.46857448A>C | NCBI36 |
| NG_021394.1:g.44302T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.2815-6T>G MANE Select | ENSP00000367888.1:n.2815-6T>G | |
| ENST00000378623.5:c.2815-6T>G | ENSP00000367888.1:n.2815-6T>G | |
| NM_002334.3:c.2815-6T>G | NP_002325.2:n.2815-6T>G | |
| XM_011520102.1:c.3028-6T>G | XP_011518404.1:n.3028-6T>G | |
| XM_011520103.1:c.2011-6T>G | XP_011518405.1:n.2011-6T>G | |
| XM_011520104.1:c.580-6T>G | XP_011518406.1:n.580-6T>G | |
| XM_011520103.2:c.2011-6T>G | XP_011518405.1:n.2011-6T>G | |
| XM_011520104.2:c.580-6T>G | XP_011518406.1:n.580-6T>G | |
| XM_017017734.1:c.2815-6T>G | XP_016873223.1:n.2815-6T>G | |
| NM_002334.4:c.2815-6T>G MANE Select | NP_002325.2:n.2815-6T>G |