Linked Data
ClinVar Variation Id:
1413
ClinVar RCV Id:
RCV000001478
dbSNP Id:
rs267607049
PubMed:
PMID:10903344
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165060026A>G , CM000665.2:g.165060026A>G | GRCh38 |
| NC_000003.11:g.164777814A>G , CM000665.1:g.164777814A>G | GRCh37 |
| NC_000003.10:g.166260508A>G | NCBI36 |
| NG_017043.1:g.23470T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264382.8:c.1022T>C MANE Select | ENSP00000264382.3:p.Leu341Pro | |
| ENST00000264382.7:c.1022T>C | ENSP00000264382.3:p.Leu341Pro | |
| NM_001041.3:c.1022T>C | NP_001032.2:p.Leu341Pro | |
| XM_011513078.1:c.923T>C | XP_011511380.1:p.Leu308Pro | |
| XM_011513078.2:c.923T>C | XP_011511380.1:p.Leu308Pro | |
| NM_001041.4:c.1022T>C MANE Select | NP_001032.2:p.Leu341Pro |