Linked Data
ClinVar Variation Id:
2104
ClinVar RCV Id:
RCV000002185
dbSNP Id:
rs121434365
PubMed:
PMID:15220921
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158192003T>C , CM000668.2:g.158192003T>C | GRCh38 |
| NC_000006.11:g.158613035T>C , CM000668.1:g.158613035T>C | GRCh37 |
| NC_000006.10:g.158533023T>C | NCBI36 |
| NG_011758.1:g.28657T>C , LRG_469:g.28657T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684993.1:n.121T>C | ||
| ENST00000689018.1:n.41-1207T>C | ||
| ENST00000689809.1:c.62T>C | ENSP00000510752.1:p.Leu21Pro | |
| ENST00000691867.1:c.62T>C | ENSP00000510706.1:p.Leu21Pro | |
| ENST00000607778.2:c.62T>C MANE Select | ENSP00000476100.1:p.Leu21Pro | |
| ENST00000648328.1:c.*27T>C | ENSP00000497338.1:n.*27T>C | |
| ENST00000607778.1:c.62T>C | ENSP00000476100.1:p.Leu21Pro | |
| NM_207118.2:c.62T>C , LRG_469t1:c.62T>C | NP_997001.1:p.Leu21Pro | |
| XM_017010862.1:c.92T>C | XP_016866351.1:p.Leu31Pro | |
| NM_207118.3:c.62T>C MANE Select | NP_997001.1:p.Leu21Pro |