Linked Data
ClinVar Variation Id:
16055
ClinVar RCV Id:
RCV000017433
dbSNP Id:
rs121918424
gnomAD v4:
12-21546446-A-G
PubMed:
PMID:9691087
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21546446A>G , CM000674.2:g.21546446A>G | GRCh38 |
| NC_000012.11:g.21699380A>G , CM000674.1:g.21699380A>G | GRCh37 |
| NC_000012.10:g.21590647A>G | NCBI36 |
| NG_016167.1:g.63402T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261195.3:c.1447T>C MANE Select | ENSP00000261195.2:p.Ser483Pro | |
| ENST00000647960.1:c.*1449T>C | ENSP00000497202.1:n.*1449T>C | |
| ENST00000261195.2:c.1447T>C | ENSP00000261195.2:p.Ser483Pro | |
| NM_021957.3:c.1447T>C | NP_068776.2:p.Ser483Pro | |
| XM_005253352.1:c.1447T>C | XP_005253409.1:p.Ser483Pro | |
| XM_005253354.2:c.1228T>C | XP_005253411.1:p.Ser410Pro | |
| XM_006719062.2:c.1447T>C | XP_006719125.1:p.Ser483Pro | |
| XM_006719063.2:c.1216T>C | XP_006719126.1:p.Ser406Pro | |
| NM_021957.4:c.1447T>C MANE Select | NP_068776.2:p.Ser483Pro | |
| XM_006719063.3:c.1216T>C | XP_006719126.1:p.Ser406Pro | |
| XM_024448960.1:c.1447T>C | XP_024304728.1:p.Ser483Pro |