Linked Data
ClinVar Variation Id:
5125
ClinVar RCV Id:
RCV000005432
dbSNP Id:
rs104894321
PubMed:
PMID:11007475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8605325A>G , CM000674.2:g.8605325A>G | GRCh38 |
| NC_000012.11:g.8757921A>G , CM000674.1:g.8757921A>G | GRCh37 |
| NC_000012.10:g.8649188A>G | NCBI36 |
| NG_011588.1:g.12522T>C , LRG_17:g.12522T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537228.6:c.317T>C | ENSP00000445691.1:p.Leu106Pro | |
| ENST00000543081.6:c.317T>C | ENSP00000439103.2:p.Leu106Pro | |
| ENST00000544516.6:c.157-988T>C | ENSP00000439538.2:n.157-988T>C | |
| ENST00000545576.2:n.426T>C | ||
| ENST00000696246.1:c.302T>C | ENSP00000512504.1:p.Leu101Pro | |
| ENST00000696271.1:n.437T>C | ||
| ENST00000696272.1:c.302T>C | ENSP00000512515.1:p.Leu101Pro | |
| ENST00000696273.1:c.350T>C | ENSP00000512516.1:p.Leu117Pro | |
| ENST00000229335.11:c.317T>C MANE Select | ENSP00000229335.6:p.Leu106Pro | |
| ENST00000229335.10:c.317T>C | ENSP00000229335.6:p.Leu106Pro | |
| ENST00000537228.5:c.317T>C | ENSP00000445691.1:p.Leu106Pro | |
| ENST00000543081.5:c.313T>C | ||
| ENST00000544516.5:c.153-988T>C | ||
| ENST00000545512.1:c.313T>C | ||
| ENST00000545576.1:n.351T>C | ||
| NM_020661.2:c.317T>C , LRG_17t1:c.317T>C | NP_065712.1:p.Leu106Pro | |
| XM_011520772.1:c.317T>C | XP_011519074.1:p.Leu106Pro | |
| XM_011520773.1:c.317T>C | XP_011519075.1:p.Leu106Pro | |
| NM_001330343.1:c.317T>C | NP_001317272.1:p.Leu106Pro | |
| NM_020661.3:c.317T>C | NP_065712.1:p.Leu106Pro | |
| XM_011520773.2:c.317T>C | XP_011519075.1:p.Leu106Pro | |
| NM_020661.4:c.317T>C MANE Select | NP_065712.1:p.Leu106Pro | |
| NM_001330343.2:c.317T>C | NP_001317272.1:p.Leu106Pro |