Linked Data
ClinVar Variation Id:
4499
dbSNP Id:
rs121912619
ExAC:
5:33951733 A / G
gnomAD v2:
5-33951733-A-G
gnomAD v3:
5-33951628-A-G
gnomAD v4:
5-33951628-A-G
PubMed:
PMID:14722913
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33951628A>G , CM000667.2:g.33951628A>G | GRCh38 |
| NC_000005.9:g.33951733A>G , CM000667.1:g.33951733A>G | GRCh37 |
| NC_000005.8:g.33987490A>G | NCBI36 |
| NG_011691.2:g.38048T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296589.9:c.1082T>C MANE Select | ENSP00000296589.4:p.Leu361Pro | |
| ENST00000296589.8:c.1082T>C | ENSP00000296589.4:p.Leu361Pro | |
| ENST00000382102.7:c.1082T>C | ENSP00000371534.3:p.Leu361Pro | |
| ENST00000509381.1:c.*24T>C | ENSP00000421100.1:n.*24T>C | |
| ENST00000510600.1:c.557T>C | ENSP00000424010.1:p.Leu186Pro | |
| NM_001012509.3:c.1082T>C | NP_001012527.1:p.Leu361Pro | |
| NM_001297417.2:c.*24T>C | NP_001284346.2:n.*24T>C | |
| NM_016180.4:c.1082T>C | NP_057264.3:p.Leu361Pro | |
| XM_011514051.1:c.680T>C | XP_011512353.1:p.Leu227Pro | |
| XR_925620.1:n.1899T>C | ||
| NM_016180.5:c.1082T>C MANE Select | NP_057264.4:p.Leu361Pro | |
| NM_001012509.4:c.1082T>C | NP_001012527.2:p.Leu361Pro | |
| NM_001297417.3:c.*24T>C | NP_001284346.2:n.*24T>C | |
| NM_001297417.4:c.*24T>C | NP_001284346.2:n.*24T>C |