Linked Data
ClinVar Variation Id:
133555
ClinVar RCV Id:
RCV000120068
dbSNP Id:
rs587778054
gnomAD v4:
1-26779216-T-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26779216T>C , CM000663.2:g.26779216T>C | GRCh38 |
| NC_000001.10:g.27105707T>C , CM000663.1:g.27105707T>C | GRCh37 |
| NC_000001.9:g.26978294T>C | NCBI36 |
| NG_029965.1:g.88186T>C , LRG_875:g.88186T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.5318T>C MANE Select | ENSP00000320485.7:p.Leu1773Pro | |
| ENST00000374152.7:c.4169T>C | ENSP00000363267.2:p.Leu1390Pro | |
| ENST00000430799.7:c.4166T>C | ENSP00000390317.3:p.Leu1389Pro | |
| ENST00000466382.2:c.735T>C | ||
| ENST00000636219.1:c.4172T>C | ENSP00000489842.1:p.Leu1391Pro | |
| ENST00000637788.1:n.1118T>C | ||
| ENST00000324856.11:c.5318T>C | ENSP00000320485.7:p.Leu1773Pro | |
| ENST00000374152.6:c.4169T>C | ENSP00000363267.2:p.Leu1390Pro | |
| ENST00000430799.6:c.2007T>C | ||
| ENST00000457599.6:c.4667T>C | ENSP00000387636.2:p.Leu1556Pro | |
| ENST00000466382.1:c.735T>C | ||
| ENST00000532781.1:c.816T>C | ||
| NM_006015.4:c.5318T>C , LRG_875t1:c.5318T>C | NP_006006.3:p.Leu1773Pro | |
| NM_139135.2:c.4667T>C | NP_624361.1:p.Leu1556Pro | |
| NM_006015.5:c.5318T>C | NP_006006.3:p.Leu1773Pro | |
| NM_139135.3:c.4667T>C | NP_624361.1:p.Leu1556Pro | |
| NM_006015.6:c.5318T>C MANE Select | NP_006006.3:p.Leu1773Pro | |
| NM_139135.4:c.4667T>C | NP_624361.1:p.Leu1556Pro |