Linked Data
ClinVar Variation Id:
393469
ClinVar RCV Id:
RCV000445554
dbSNP Id:
rs1057524917
gnomAD v3:
22-29125411-T-C
gnomAD v4:
22-29125411-T-C
PubMed:
PMID:27049303
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29125411T>C , CM000684.2:g.29125411T>C | GRCh38 |
| NC_000022.10:g.29521399T>C , CM000684.1:g.29521399T>C | GRCh37 |
| NC_000022.9:g.27851399T>C | NCBI36 |
| NG_052986.1:g.57334T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400335.9:c.626T>C MANE Select | ENSP00000383189.4:p.Phe209Ser | |
| ENST00000327813.9:c.626T>C | ENSP00000331242.5:p.Phe209Ser | |
| ENST00000400335.8:c.626T>C | ENSP00000383189.4:p.Phe209Ser | |
| ENST00000407188.5:c.620T>C | ENSP00000385431.1:p.Phe207Ser | |
| ENST00000453585.1:c.190T>C | ||
| ENST00000474001.1:n.215T>C | ||
| NM_001039570.2:c.626T>C | NP_001034659.2:p.Phe209Ser | |
| NM_032045.4:c.626T>C | NP_114434.3:p.Phe209Ser | |
| XM_011530429.1:c.626T>C | XP_011528731.1:p.Phe209Ser | |
| XM_011530430.1:c.353-11931T>C | XP_011528732.1:n.353-11931T>C | |
| XM_011530431.1:c.311T>C | XP_011528733.1:p.Phe104Ser | |
| XM_011530432.1:c.209T>C | XP_011528734.1:p.Phe70Ser | |
| XM_011530429.2:c.626T>C | XP_011528731.1:p.Phe209Ser | |
| XM_011530430.2:c.353-11931T>C | XP_011528732.1:n.353-11931T>C | |
| XM_011530431.2:c.311T>C | XP_011528733.1:p.Phe104Ser | |
| XM_011530432.2:c.209T>C | XP_011528734.1:p.Phe70Ser | |
| XM_017028989.1:c.353-11931T>C | XP_016884478.1:n.353-11931T>C | |
| NM_001039570.3:c.626T>C MANE Select | NP_001034659.2:p.Phe209Ser | |
| NM_032045.5:c.626T>C | NP_114434.3:p.Phe209Ser |