Linked Data
ClinVar Variation Id:
2179
ClinVar RCV Id:
RCV000002263
dbSNP Id:
rs121918275
PubMed:
PMID:15105459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124865591T>C , CM000673.2:g.124865591T>C | GRCh38 |
| NC_000011.9:g.124735487T>C , CM000673.1:g.124735487T>C | GRCh37 |
| NC_000011.8:g.124240697T>C | NCBI36 |
| NG_016214.1:g.5183T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397801.6:c.14T>C MANE Select | ENSP00000380903.1:p.Leu5Pro | |
| ENST00000397801.5:c.14T>C | ENSP00000380903.1:p.Leu5Pro | |
| NM_022370.3:c.14T>C | NP_071765.2:p.Leu5Pro | |
| XM_011542953.1:c.491T>C | XP_011541255.1:p.Leu164Pro | |
| NM_022370.4:c.14T>C MANE Select | NP_071765.2:p.Leu5Pro |