Linked Data
ClinVar Variation Id:
2914
ClinVar RCV Id:
RCV000003048
dbSNP Id:
rs104894651
PubMed:
PMID:12588794
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74922931A>G , CM000679.2:g.74922931A>G | GRCh38 |
| NC_000017.10:g.72919026A>G , CM000679.1:g.72919026A>G | GRCh37 |
| NC_000017.9:g.70430621A>G | NCBI36 |
| NG_007882.1:g.5326T>C | |
| NG_033062.1:g.3657A>G | |
| NG_007882.2:g.5333T>C | |
| NG_033062.2:g.3657A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614341.5:c.143T>C MANE Select | ENSP00000480279.1:p.Leu48Pro | |
| ENST00000579243.1:c.143T>C | ENSP00000462568.1:p.Leu48Pro | |
| ENST00000614341.4:c.143T>C | ENSP00000480279.1:p.Leu48Pro | |
| NM_001282489.2:c.-114T>C | NP_001269418.1:n.-114T>C | |
| NM_173477.4:c.143T>C | NP_775748.2:p.Leu48Pro | |
| NM_173477.5:c.143T>C MANE Select | NP_775748.2:p.Leu48Pro | |
| NM_001282489.3:c.-114T>C | NP_001269418.1:n.-114T>C |