Linked Data
ClinVar Variation Id:
50996
dbSNP Id:
rs397514707
gnomAD v3:
6-109735176-T-C
gnomAD v4:
6-109735176-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109735176T>C , CM000668.2:g.109735176T>C | GRCh38 |
| NC_000006.11:g.110056379T>C , CM000668.1:g.110056379T>C | GRCh37 |
| NC_000006.10:g.110163072T>C | NCBI36 |
| NG_007977.1:g.48956T>C , LRG_241:g.48956T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.524T>C MANE Select | ENSP00000230124.4:p.Leu175Pro | |
| ENST00000368941.2:c.524T>C | ENSP00000357937.2:p.Leu175Pro | |
| ENST00000415980.2:c.-223-26915T>C | ENSP00000405660.2:n.-223-26915T>C | |
| ENST00000454215.6:c.524T>C | ENSP00000412156.2:p.Leu175Pro | |
| ENST00000674532.1:n.694T>C | ||
| ENST00000674557.1:c.367T>C | ENSP00000501608.1:p.Phe123Leu | |
| ENST00000674569.1:c.524T>C | ENSP00000502769.1:p.Leu175Pro | |
| ENST00000674571.1:c.524T>C | ENSP00000501633.1:p.Leu175Pro | |
| ENST00000674575.1:c.518T>C | ENSP00000502276.1:p.Leu173Pro | |
| ENST00000674614.1:n.491T>C | ||
| ENST00000674641.1:c.179T>C | ENSP00000501609.1:p.Leu60Pro | |
| ENST00000674644.1:c.-177T>C | ENSP00000502201.1:n.-177T>C | |
| ENST00000674649.1:c.*217T>C | ENSP00000501669.1:n.*217T>C | |
| ENST00000674657.1:c.367T>C | ENSP00000502314.1:p.Phe123Leu | |
| ENST00000674744.1:c.518T>C | ENSP00000501661.1:p.Leu173Pro | |
| ENST00000674778.1:c.524T>C | ENSP00000502742.1:p.Leu175Pro | |
| ENST00000674783.1:c.524T>C | ENSP00000502755.1:p.Leu175Pro | |
| ENST00000674830.1:n.495T>C | ||
| ENST00000674884.1:c.542T>C | ENSP00000502668.1:p.Leu181Pro | |
| ENST00000674930.1:c.*42T>C | ENSP00000502657.1:n.*42T>C | |
| ENST00000674933.1:c.293T>C | ENSP00000502376.1:p.Leu98Pro | |
| ENST00000674956.1:c.524T>C | ENSP00000501904.1:p.Leu175Pro | |
| ENST00000675002.1:n.612T>C | ||
| ENST00000675004.1:c.*476T>C | ENSP00000501868.1:n.*476T>C | |
| ENST00000675009.1:c.*42T>C | ENSP00000502098.1:n.*42T>C | |
| ENST00000675096.1:c.524T>C | ENSP00000502116.1:p.Leu175Pro | |
| ENST00000675122.1:c.524T>C | ENSP00000501810.1:p.Leu175Pro | |
| ENST00000675153.1:c.524T>C | ENSP00000501682.1:p.Leu175Pro | |
| ENST00000675284.1:c.524T>C | ENSP00000502758.1:p.Leu175Pro | |
| ENST00000675311.1:c.367T>C | ENSP00000501961.1:p.Phe123Leu | |
| ENST00000675426.1:c.367T>C | ENSP00000501819.1:p.Phe123Leu | |
| ENST00000675523.1:c.293T>C | ENSP00000502384.1:p.Leu98Pro | |
| ENST00000675552.1:c.524T>C | ENSP00000502197.1:p.Leu175Pro | |
| ENST00000675681.1:c.524T>C | ENSP00000502705.1:p.Leu175Pro | |
| ENST00000675714.1:c.524T>C | ENSP00000502561.1:p.Leu175Pro | |
| ENST00000675726.1:c.524T>C | ENSP00000502452.1:p.Leu175Pro | |
| ENST00000675772.1:c.524T>C | ENSP00000501678.1:p.Leu175Pro | |
| ENST00000675831.1:c.524T>C | ENSP00000502382.1:p.Leu175Pro | |
| ENST00000675834.1:n.362T>C | ||
| ENST00000675844.1:c.293T>C | ENSP00000502353.1:p.Leu98Pro | |
| ENST00000675847.1:n.648T>C | ||
| ENST00000675887.1:c.*127T>C | ENSP00000502123.1:n.*127T>C | |
| ENST00000675973.1:c.524T>C | ENSP00000502407.1:p.Leu175Pro | |
| ENST00000675991.1:c.524T>C | ENSP00000502162.1:p.Leu175Pro | |
| ENST00000675994.1:c.524T>C | ENSP00000502419.1:p.Leu175Pro | |
| ENST00000676021.1:c.524T>C | ENSP00000502746.1:p.Leu175Pro | |
| ENST00000676037.1:c.524T>C | ENSP00000502181.1:p.Leu175Pro | |
| ENST00000676136.1:n.664T>C | ||
| ENST00000676435.1:c.524T>C | ENSP00000502614.1:p.Leu175Pro | |
| ENST00000676442.1:c.524T>C | ENSP00000502595.1:p.Leu175Pro | |
| ENST00000230124.7:c.524T>C | ENSP00000230124.3:p.Leu175Pro | |
| ENST00000368941.1:c.293T>C | ENSP00000357937.1:p.Leu98Pro | |
| ENST00000454215.5:c.461T>C | ENSP00000412156.1:p.Leu154Pro | |
| NM_014845.5:c.524T>C , LRG_241t1:c.524T>C | NP_055660.1:p.Leu175Pro | |
| XM_011536281.1:c.461T>C | XP_011534583.1:p.Leu154Pro | |
| XM_011536281.3:c.461T>C | XP_011534583.1:p.Leu154Pro | |
| XM_017011591.2:c.524T>C | XP_016867080.1:p.Leu175Pro | |
| XM_017011592.1:c.-26T>C | XP_016867081.1:n.-26T>C | |
| XM_017011593.2:c.-177T>C | XP_016867082.1:n.-177T>C | |
| NM_014845.6:c.524T>C MANE Select | NP_055660.1:p.Leu175Pro |