Linked Data
ClinVar Variation Id:
2733833
ClinVar RCV Id:
RCV003562211
dbSNP Id:
rs139909733
ExAC:
1:16378223 T / C
gnomAD v2:
1-16378223-T-C
gnomAD v3:
1-16051728-T-C
gnomAD v4:
1-16051728-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16051728T>C , CM000663.2:g.16051728T>C | GRCh38 |
| NC_000001.10:g.16378223T>C , CM000663.1:g.16378223T>C | GRCh37 |
| NC_000001.9:g.16250810T>C | NCBI36 |
| NG_013079.1:g.12977T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682338.1:c.1316T>C | ENSP00000507062.1:p.Leu439Pro | |
| ENST00000682793.1:c.1316T>C | ENSP00000506910.1:p.Leu439Pro | |
| ENST00000682838.1:c.*1058T>C | ENSP00000507652.1:n.*1058T>C | |
| ENST00000683578.1:c.1316T>C | ENSP00000507430.1:p.Leu439Pro | |
| ENST00000683606.1:n.931T>C | ||
| ENST00000683661.1:n.2851T>C | ||
| ENST00000684324.1:c.1316T>C | ENSP00000507937.1:p.Leu439Pro | |
| ENST00000684545.1:c.1316T>C | ENSP00000506733.1:p.Leu439Pro | |
| ENST00000684624.1:n.693T>C | ||
| ENST00000684714.1:c.1316T>C | ENSP00000506861.1:p.Leu439Pro | |
| ENST00000684731.1:n.777T>C | ||
| ENST00000375679.9:c.1316T>C MANE Select | ENSP00000364831.5:p.Leu439Pro | |
| ENST00000375667.7:c.809T>C | ENSP00000364819.3:p.Leu270Pro | |
| ENST00000375679.8:c.1316T>C | ENSP00000364831.4:p.Leu439Pro | |
| ENST00000619181.4:c.935T>C | ENSP00000483866.1:p.Leu312Pro | |
| NM_000085.4:c.1316T>C | NP_000076.2:p.Leu439Pro | |
| NM_001165945.2:c.809T>C | NP_001159417.2:p.Leu270Pro | |
| XM_011540619.1:c.1157T>C | XP_011538921.1:p.Leu386Pro | |
| XM_011540620.1:c.1316T>C | XP_011538922.1:p.Leu439Pro | |
| XM_011540621.1:c.665T>C | XP_011538923.1:p.Leu222Pro | |
| NM_000085.5:c.1316T>C MANE Select | NP_000076.2:p.Leu439Pro |