Linked Data
ClinVar Variation Id:
566074
ClinVar RCV Id:
RCV000685798
dbSNP Id:
rs45578741
ExAC:
17:37822174 C / A
gnomAD v2:
17-37822174-C-A
gnomAD v4:
17-39665921-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665921C>A , CM000679.2:g.39665921C>A | GRCh38 |
| NC_000017.10:g.37822174C>A , CM000679.1:g.37822174C>A | GRCh37 |
| NC_000017.9:g.35075700C>A | NCBI36 |
| NG_008892.1:g.5576C>A , LRG_210:g.5576C>A | |
| NG_042278.1:g.2941C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.316C>A MANE Select | ENSP00000312624.2:p.Arg106Ser | |
| ENST00000309889.2:c.316C>A | ENSP00000312624.2:p.Arg106Ser | |
| ENST00000578283.1:c.244C>A | ENSP00000462787.1:p.Arg82Ser | |
| NM_003673.3:c.316C>A , LRG_210t1:c.316C>A | NP_003664.1:p.Arg106Ser | |
| NM_003673.4:c.316C>A MANE Select | NP_003664.1:p.Arg106Ser |