Linked Data
ClinVar Variation Id:
1619738
ClinVar RCV Id:
RCV002089073
dbSNP Id:
rs190536383
ExAC:
1:215916508 A / C
gnomAD v2:
1-215916508-A-C
gnomAD v3:
1-215743166-A-C
gnomAD v4:
1-215743166-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215743166A>C , CM000663.2:g.215743166A>C | GRCh38 |
| NC_000001.10:g.215916508A>C , CM000663.1:g.215916508A>C | GRCh37 |
| NC_000001.9:g.213983131A>C | NCBI36 |
| NG_009497.1:g.685231T>G | |
| NG_009497.2:g.685283T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11548+11T>G MANE Select | ENSP00000305941.3:n.11548+11T>G | |
| ENST00000674083.1:c.11548+11T>G | ENSP00000501296.1:n.11548+11T>G | |
| ENST00000307340.7:c.11548+11T>G | ENSP00000305941.3:n.11548+11T>G | |
| NM_206933.2:c.11548+11T>G | NP_996816.2:n.11548+11T>G | |
| NM_206933.3:c.11548+11T>G | NP_996816.2:n.11548+11T>G | |
| NM_206933.4:c.11548+11T>G MANE Select | NP_996816.3:n.11548+11T>G |