Linked Data
ClinVar Variation Id:
1959588
ClinVar RCV Id:
RCV002710340
dbSNP Id:
rs557855973
gnomAD v2:
15-80884063-C-G
gnomAD v3:
15-80591722-C-G
gnomAD v4:
15-80591722-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80591722C>G , CM000677.2:g.80591722C>G | GRCh38 |
| NC_000015.9:g.80884063C>G , CM000677.1:g.80884063C>G | GRCh37 |
| NC_000015.8:g.78671118C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303329.9:c.2055+18C>G MANE Select | ENSP00000307479.4:n.2055+18C>G | |
| ENST00000303329.8:c.2055+18C>G | ENSP00000307479.4:n.2055+18C>G | |
| ENST00000527771.5:c.2022+18C>G | ENSP00000453792.1:n.2022+18C>G | |
| ENST00000533983.5:c.2022+18C>G | ENSP00000453651.1:n.2022+18C>G | |
| ENST00000610490.4:c.*353+18C>G | ENSP00000483762.1:n.*353+18C>G | |
| ENST00000622346.4:c.2055+18C>G | ENSP00000479393.1:n.2055+18C>G | |
| NM_014862.3:c.2055+18C>G | NP_055677.3:n.2055+18C>G | |
| NM_014862.4:c.2055+18C>G MANE Select | NP_055677.3:n.2055+18C>G |