Linked Data
ClinVar Variation Id:
341675
ClinVar RCV Id:
RCV000346042
dbSNP Id:
rs146309087
ExAC:
22:41318469 T / C
gnomAD v2:
22-41318469-T-C
gnomAD v3:
22-40922465-T-C
gnomAD v4:
22-40922465-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40922465T>C , CM000684.2:g.40922465T>C | GRCh38 |
| NC_000022.10:g.41318469T>C , CM000684.1:g.41318469T>C | GRCh37 |
| NC_000022.9:g.39648415T>C | NCBI36 |
| NG_028221.1:g.70385T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357137.9:c.1188T>C MANE Select | ENSP00000349658.4:p.Leu396= | |
| ENST00000357137.8:c.1188T>C | ENSP00000349658.4:p.Leu396= | |
| ENST00000428799.1:c.*1070T>C | ENSP00000394283.1:n.*1070T>C | |
| NM_022098.3:c.1188T>C | NP_071381.1:p.Leu396= | |
| NM_022098.4:c.1188T>C MANE Select | NP_071381.1:p.Leu396= |